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Gene Product Sequence Variation

MedGen UID:
475337
Concept ID:
C3273704
Cell or Molecular Dysfunction
Synonym: Gene Product Sequence Variant

Definition

A variation in the sequence of a specific gene product. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGene Product Sequence Variation

Professional guidelines

PubMed

Bousman CA, Stevenson JM, Ramsey LB, Sangkuhl K, Hicks JK, Strawn JR, Singh AB, Ruaño G, Mueller DJ, Tsermpini EE, Brown JT, Bell GC, Leeder JS, Gaedigk A, Scott SA, Klein TE, Caudle KE, Bishop JR
Clin Pharmacol Ther 2023 Jul;114(1):51-68. Epub 2023 May 30 doi: 10.1002/cpt.2903. PMID: 37032427Free PMC Article
Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela WAR, Betts J, Bober MB, Boero S, Briddell J, Campbell J, Campeau PM, Carl-Innig P, Cheung MS, Cobourne M, Cormier-Daire V, Deladure-Molla M, Del Pino M, Elphick H, Fano V, Fauroux B, Gibbins J, Groves ML, Hagenäs L, Hannon T, Hoover-Fong J, Kaisermann M, Leiva-Gea A, Llerena J, Mackenzie W, Martin K, Mazzoleni F, McDonnell S, Meazzini MC, Milerad J, Mohnike K, Mortier GR, Offiah A, Ozono K, Phillips JA 3rd, Powell S, Prasad Y, Raggio C, Rosselli P, Rossiter J, Selicorni A, Sessa M, Theroux M, Thomas M, Trespedi L, Tunkel D, Wallis C, Wright M, Yasui N, Fredwall SO
Nat Rev Endocrinol 2022 Mar;18(3):173-189. Epub 2021 Nov 26 doi: 10.1038/s41574-021-00595-x. PMID: 34837063
Turk BR, Theda C, Fatemi A, Moser AB
Int J Dev Neurosci 2020 Feb;80(1):52-72. Epub 2020 Jan 26 doi: 10.1002/jdn.10003. PMID: 31909500Free PMC Article

Recent clinical studies

Etiology

Islam F, Men X, Yoshida K, Zai CC, Müller DJ
Clin Pharmacol Ther 2021 Sep;110(3):582-588. Epub 2021 Aug 18 doi: 10.1002/cpt.2339. PMID: 34129738
Wright GEB, Black HF, Collins JA, Gall-Duncan T, Caron NS, Pearson CE, Hayden MR
Lancet Neurol 2020 Nov;19(11):930-939. doi: 10.1016/S1474-4422(20)30343-4. PMID: 33098802
Farrell PJ
Curr Top Microbiol Immunol 2015;390(Pt 1):45-69. doi: 10.1007/978-3-319-22822-8_4. PMID: 26424643
Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL
Hum Mutat 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202. PMID: 20104584Free PMC Article
Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kücükceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, Buske A, Tinschert S, Nürnberg P
Am J Hum Genet 2000 Mar;66(3):790-818. doi: 10.1086/302809. PMID: 10712197Free PMC Article

Diagnosis

Wright GEB, Black HF, Collins JA, Gall-Duncan T, Caron NS, Pearson CE, Hayden MR
Lancet Neurol 2020 Nov;19(11):930-939. doi: 10.1016/S1474-4422(20)30343-4. PMID: 33098802
Zipfel PF, Wiech T, Stea ED, Skerka C
J Am Soc Nephrol 2020 Feb;31(2):241-256. Epub 2020 Jan 24 doi: 10.1681/ASN.2019050515. PMID: 31980588Free PMC Article
Geiler-Samerotte K, Sartori FMO, Siegal ML
Semin Cell Dev Biol 2019 Apr;88:54-66. Epub 2018 May 24 doi: 10.1016/j.semcdb.2018.05.008. PMID: 29751086Free PMC Article
Ito K, Patel PN, Gorham JM, McDonough B, DePalma SR, Adler EE, Lam L, MacRae CA, Mohiuddin SM, Fatkin D, Seidman CE, Seidman JG
Proc Natl Acad Sci U S A 2017 Jul 18;114(29):7689-7694. Epub 2017 Jul 5 doi: 10.1073/pnas.1707741114. PMID: 28679633Free PMC Article
Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH
Genet Med 2014 Aug;16(8):601-8. Epub 2014 Feb 6 doi: 10.1038/gim.2013.204. PMID: 24503780

Therapy

Islam F, Men X, Yoshida K, Zai CC, Müller DJ
Clin Pharmacol Ther 2021 Sep;110(3):582-588. Epub 2021 Aug 18 doi: 10.1002/cpt.2339. PMID: 34129738
Chao J, Fuchs CS, Shitara K, Tabernero J, Muro K, Van Cutsem E, Bang YJ, De Vita F, Landers G, Yen CJ, Chau I, Elme A, Lee J, Özgüroglu M, Catenacci D, Yoon HH, Chen E, Adelberg D, Shih CS, Shah S, Bhagia P, Wainberg ZA
JAMA Oncol 2021 Jun 1;7(6):895-902. doi: 10.1001/jamaoncol.2021.0275. PMID: 33792646Free PMC Article
Metz S, Huang LO, Kilpeläinen TO
Curr Opin Pharmacol 2020 Jun;52:33-39. Epub 2020 May 29 doi: 10.1016/j.coph.2020.04.006. PMID: 32480034
Interleukin-6 Receptor Mendelian Randomisation Analysis (IL6R MR) Consortium, Swerdlow DI, Holmes MV, Kuchenbaecker KB, Engmann JE, Shah T, Sofat R, Guo Y, Chung C, Peasey A, Pfister R, Mooijaart SP, Ireland HA, Leusink M, Langenberg C, Li KW, Palmen J, Howard P, Cooper JA, Drenos F, Hardy J, Nalls MA, Li YR, Lowe G, Stewart M, Bielinski SJ, Peto J, Timpson NJ, Gallacher J, Dunlop M, Houlston R, Tomlinson I, Tzoulaki I, Luan J, Boer JM, Forouhi NG, Onland-Moret NC, van der Schouw YT, Schnabel RB, Hubacek JA, Kubinova R, Baceviciene M, Tamosiunas A, Pajak A, Topor-Madry R, Malyutina S, Baldassarre D, Sennblad B, Tremoli E, de Faire U, Ferrucci L, Bandenelli S, Tanaka T, Meschia JF, Singleton A, Navis G, Mateo Leach I, Bakker SJ, Gansevoort RT, Ford I, Epstein SE, Burnett MS, Devaney JM, Jukema JW, Westendorp RG, Jan de Borst G, van der Graaf Y, de Jong PA, Mailand-van der Zee AH, Klungel OH, de Boer A, Doevendans PA, Stephens JW, Eaton CB, Robinson JG, Manson JE, Fowkes FG, Frayling TM, Price JF, Whincup PH, Morris RW, Lawlor DA, Smith GD, Ben-Shlomo Y, Redline S, Lange LA, Kumari M, Wareham NJ, Verschuren WM, Benjamin EJ, Whittaker JC, Hamsten A, Dudbridge F, Delaney JA, Wong A, Kuh D, Hardy R, Castillo BA, Connolly JJ, van der Harst P, Brunner EJ, Marmot MG, Wassel CL, Humphries SE, Talmud PJ, Kivimaki M, Asselbergs FW, Voevoda M, Bobak M, Pikhart H, Wilson JG, Hakonarson H, Reiner AP, Keating BJ, Sattar N, Hingorani AD, Casas JP
Lancet 2012 Mar 31;379(9822):1214-24. Epub 2012 Mar 14 doi: 10.1016/S0140-6736(12)60110-X. PMID: 22421340Free PMC Article
Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA, Gocayne JD, Amanatides P, Ballew RM, Huson DH, Wortman JR, Zhang Q, Kodira CD, Zheng XH, Chen L, Skupski M, Subramanian G, Thomas PD, Zhang J, Gabor Miklos GL, Nelson C, Broder S, Clark AG, Nadeau J, McKusick VA, Zinder N, Levine AJ, Roberts RJ, Simon M, Slayman C, Hunkapiller M, Bolanos R, Delcher A, Dew I, Fasulo D, Flanigan M, Florea L, Halpern A, Hannenhalli S, Kravitz S, Levy S, Mobarry C, Reinert K, Remington K, Abu-Threideh J, Beasley E, Biddick K, Bonazzi V, Brandon R, Cargill M, Chandramouliswaran I, Charlab R, Chaturvedi K, Deng Z, Di Francesco V, Dunn P, Eilbeck K, Evangelista C, Gabrielian AE, Gan W, Ge W, Gong F, Gu Z, Guan P, Heiman TJ, Higgins ME, Ji RR, Ke Z, Ketchum KA, Lai Z, Lei Y, Li Z, Li J, Liang Y, Lin X, Lu F, Merkulov GV, Milshina N, Moore HM, Naik AK, Narayan VA, Neelam B, Nusskern D, Rusch DB, Salzberg S, Shao W, Shue B, Sun J, Wang Z, Wang A, Wang X, Wang J, Wei M, Wides R, Xiao C, Yan C, Yao A, Ye J, Zhan M, Zhang W, Zhang H, Zhao Q, Zheng L, Zhong F, Zhong W, Zhu S, Zhao S, Gilbert D, Baumhueter S, Spier G, Carter C, Cravchik A, Woodage T, Ali F, An H, Awe A, Baldwin D, Baden H, Barnstead M, Barrow I, Beeson K, Busam D, Carver A, Center A, Cheng ML, Curry L, Danaher S, Davenport L, Desilets R, Dietz S, Dodson K, Doup L, Ferriera S, Garg N, Gluecksmann A, Hart B, Haynes J, Haynes C, Heiner C, Hladun S, Hostin D, Houck J, Howland T, Ibegwam C, Johnson J, Kalush F, Kline L, Koduru S, Love A, Mann F, May D, McCawley S, McIntosh T, McMullen I, Moy M, Moy L, Murphy B, Nelson K, Pfannkoch C, Pratts E, Puri V, Qureshi H, Reardon M, Rodriguez R, Rogers YH, Romblad D, Ruhfel B, Scott R, Sitter C, Smallwood M, Stewart E, Strong R, Suh E, Thomas R, Tint NN, Tse S, Vech C, Wang G, Wetter J, Williams S, Williams M, Windsor S, Winn-Deen E, Wolfe K, Zaveri J, Zaveri K, Abril JF, Guigó R, Campbell MJ, Sjolander KV, Karlak B, Kejariwal A, Mi H, Lazareva B, Hatton T, Narechania A, Diemer K, Muruganujan A, Guo N, Sato S, Bafna V, Istrail S, Lippert R, Schwartz R, Walenz B, Yooseph S, Allen D, Basu A, Baxendale J, Blick L, Caminha M, Carnes-Stine J, Caulk P, Chiang YH, Coyne M, Dahlke C, Deslattes Mays A, Dombroski M, Donnelly M, Ely D, Esparham S, Fosler C, Gire H, Glanowski S, Glasser K, Glodek A, Gorokhov M, Graham K, Gropman B, Harris M, Heil J, Henderson S, Hoover J, Jennings D, Jordan C, Jordan J, Kasha J, Kagan L, Kraft C, Levitsky A, Lewis M, Liu X, Lopez J, Ma D, Majoros W, McDaniel J, Murphy S, Newman M, Nguyen T, Nguyen N, Nodell M, Pan S, Peck J, Peterson M, Rowe W, Sanders R, Scott J, Simpson M, Smith T, Sprague A, Stockwell T, Turner R, Venter E, Wang M, Wen M, Wu D, Wu M, Xia A, Zandieh A, Zhu X
Science 2001 Feb 16;291(5507):1304-51. doi: 10.1126/science.1058040. PMID: 11181995

Prognosis

Frazer J, Notin P, Dias M, Gomez A, Min JK, Brock K, Gal Y, Marks DS
Nature 2021 Nov;599(7883):91-95. Epub 2021 Oct 27 doi: 10.1038/s41586-021-04043-8. PMID: 34707284
Wright GEB, Black HF, Collins JA, Gall-Duncan T, Caron NS, Pearson CE, Hayden MR
Lancet Neurol 2020 Nov;19(11):930-939. doi: 10.1016/S1474-4422(20)30343-4. PMID: 33098802
Cascarina SM, Ross ED
BMC Genomics 2020 Jan 8;21(1):23. doi: 10.1186/s12864-019-6425-3. PMID: 31914925Free PMC Article
Stein A, Fowler DM, Hartmann-Petersen R, Lindorff-Larsen K
Trends Biochem Sci 2019 Jul;44(7):575-588. Epub 2019 Jan 31 doi: 10.1016/j.tibs.2019.01.003. PMID: 30712981Free PMC Article
Cohen JC, Boerwinkle E, Mosley TH Jr, Hobbs HH
N Engl J Med 2006 Mar 23;354(12):1264-72. doi: 10.1056/NEJMoa054013. PMID: 16554528

Clinical prediction guides

Frazer J, Notin P, Dias M, Gomez A, Min JK, Brock K, Gal Y, Marks DS
Nature 2021 Nov;599(7883):91-95. Epub 2021 Oct 27 doi: 10.1038/s41586-021-04043-8. PMID: 34707284
Wright GEB, Black HF, Collins JA, Gall-Duncan T, Caron NS, Pearson CE, Hayden MR
Lancet Neurol 2020 Nov;19(11):930-939. doi: 10.1016/S1474-4422(20)30343-4. PMID: 33098802
Cascarina SM, Ross ED
BMC Genomics 2020 Jan 8;21(1):23. doi: 10.1186/s12864-019-6425-3. PMID: 31914925Free PMC Article
Jackson PEH, Dzhivhuho G, Rekosh D, Hammarskjold ML
Curr HIV Res 2020;18(2):85-98. doi: 10.2174/1570162X18666200106112842. PMID: 31906839Free PMC Article
Stein A, Fowler DM, Hartmann-Petersen R, Lindorff-Larsen K
Trends Biochem Sci 2019 Jul;44(7):575-588. Epub 2019 Jan 31 doi: 10.1016/j.tibs.2019.01.003. PMID: 30712981Free PMC Article

Recent systematic reviews

Kirkham JK, Estepp JH, Weiss MJ, Rashkin SR
JAMA Netw Open 2023 Oct 2;6(10):e2337484. doi: 10.1001/jamanetworkopen.2023.37484. PMID: 37851445Free PMC Article
Formica V, Sera F, Cremolini C, Riondino S, Morelli C, Arkenau HT, Roselli M
J Natl Cancer Inst 2022 Apr 11;114(4):517-527. doi: 10.1093/jnci/djab190. PMID: 34542636Free PMC Article
Xavier MJ, Roman SD, Aitken RJ, Nixon B
Hum Reprod Update 2019 Sep 11;25(5):518-540. doi: 10.1093/humupd/dmz017. PMID: 31374565
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Srinivasan L, Swarr DT, Sharma M, Cotten CM, Kirpalani H
Am J Perinatol 2017 Jun;34(7):684-692. Epub 2016 Dec 13 doi: 10.1055/s-0036-1597132. PMID: 27960200

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