RecName: Full=Thyroid receptor-interacting protein 11; Short=TR-intera - Protein

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Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A. [Hum Mutat. 2021]
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.
Upadhyai P, Radhakrishnan P, Guleria VS, Kausthubham N, Nayak SS, Superti-Furga A, Girisha KM. Hum Mutat. 2021 Aug; 42(8):1005-1014. Epub 2021 Jun 8.
Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants. [Eur J Med Genet. 2021]
Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.
Del Pino M, Sanchez-Soler MJ, Parrón-Pajares M, Aza-Carmona M, Heath KE, Fano V. Eur J Med Genet. 2021 May; 64(5):104198. Epub 2021 Mar 18.
Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A. [Am J Med Genet A. 2020]
Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A.
Medina CTN, Sandoval R, Oliveira G, da Costa Silveira K, Cavalcanti DP, Pogue R. Am J Med Genet A. 2020 Apr; 182(4):681-688. Epub 2020 Jan 5.

RefSeq genomic sequence
See the genomic reference sequence for the TRIP11 gene (NG_016970.1).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the TRIP11 gene.

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Q15643 [Domain Mapping of Disease Mut...]
Q15643
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
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reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome

RecName: Full=Thyroid receptor-interacting protein 11; Short=TR-interacting prot...
RecName: Full=Thyroid receptor-interacting protein 11; Short=TR-interacting protein 11; Short=TRIP-11; AltName: Full=Clonal evolution-related gene on chromosome 14 protein; AltName: Full=Golgi-associated microtubule-binding protein 210; Short=GMAP-210; AltName: Full=Trip230
gi|292495059|sp|Q15643.3|TRIPB_HUMA

Protein
Homologene neighbors for GEO Profiles (Select 27152080) (0)
GEO Profiles
Transcription factor IIF cofactor GAS41 overexpression
Transcription factor IIF cofactor GAS41 overexpression
Accession: GDS2170

GEO DataSets
Related DataSets for GEO Profiles (Select 27111731) (1)
GEO DataSets

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Protein