Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.A386V

GJA3

378 papers

RefSeq Summary

The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan ...

Pfam Domains

Connexinaa 3–227UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein alpha 3

HGNC Previous Symbol

CZP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021954.4
p.A386V
c.1157C>T
Surrounding Variants
1 paper
NM_021954.4
p.A386T
c.1156G>A
3 papers
NM_021954.4
p.S385fs
c.1153_1154fs
1 paper
NM_021954.4
p.S385G
c.1153A>G
4 papers
NM_021954.4
p.G384insFs
c.1152dupG
1 paper
NM_021954.4
p.G384R
c.1150G>C
1 paper
NM_021954.4
p.G384R
c.1150G>A
7 papers
NM_021954.4
p.S381_G389delFs
c.1143_1165del23
1 paper
NM_021954.4
p.P391S
c.1171C>T
1 paper
NM_021954.4
p.P391L
c.1172C>T
1 paper
NM_021954.4
p.S381fs
c.1141_1142fs
1 paper
NM_021954.4
p.E392K
c.1174G>A
5 papers
NM_021954.4
p.S380fs
c.1138_1139fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."