V-type proton ATPase 16 kDa proteolipid subunit c [Homo sapiens]

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ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay. [J Hum Genet. 2023]
ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay.
Zhao S, Zhang X, Yang L, Wang Y, Jia S, Li X, Wang Z, Yang F, Liang M, Wang X, et al. J Hum Genet. 2023 Sep; 68(9):589-597. Epub 2023 May 10.
ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus. [Front Mol Neurosci. 2022]
ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus.
Tian Y, Zhai QX, Li XJ, Shi Z, Cheng CF, Fan CX, Tang B, Zhang Y, He YY, Li WB, et al. Front Mol Neurosci. 2022; 15:889534. Epub 2022 May 6.
Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability. [Brain Dev. 2021]
Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability.
Ittiwut C, Poonmaksatit S, Boonsimma P, Desudchit T, Suphapeetiporn K, Ittiwut R, Shotelersuk V. Brain Dev. 2021 Mar; 43(3):490-494. Epub 2020 Nov 13.

RefSeq mRNA
See reference mRNA sequence for the ATP6V0C gene (NM_001694.4).
RefSeq protein isoforms
See the other reference sequence protein isoform for the ATP6V0C gene (NP_001185498.1).

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NP_001685 [Domain Mapping of Disease Mut...]
NP_001685
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
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ExactAntigen/Labome

V-type proton ATPase 16 kDa proteolipid subunit c [Homo sapiens]
V-type proton ATPase 16 kDa proteolipid subunit c [Homo sapiens]
gi|4502313|ref|NP_001685.1|

Protein
Ute gladiata isolate SA134 18S ribosomal RNA gene, partial sequence
Ute gladiata isolate SA134 18S ribosomal RNA gene, partial sequence
gi|1474740823|gb|MH385220.1|

Nucleotide
Ute aff. syconoides OV-2012 voucher QM G313694 18S ribosomal RNA gene, partial s...
Ute aff. syconoides OV-2012 voucher QM G313694 18S ribosomal RNA gene, partial sequence
gi|385158780|gb|JQ272318.1|

Nucleotide
YPEL4 yippee like 4 [Homo sapiens]
YPEL4 yippee like 4 [Homo sapiens]
Gene ID:219539

Gene

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Protein