Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.G384R

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.G384R
c.1150G>A
Surrounding Variants
1 paper
NM_021954.4
p.G384R
c.1150G>C
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.A386T
c.1156G>A
1 paper
NM_021954.4
p.A386V
c.1157C>T
1 paper
NM_021954.4
p.S381fs
c.1141_1142fs
5 papers
NM_021954.4
p.S380fs
c.1138_1139fs
1 paper
NM_021954.4
p.D376_S380delFs
c.1126_1139del14
4 papers
NM_021954.4
p.S380fs
c.1138_1139fs
18 papers
NM_021954.4
p.G379_S380insFs
c.1137_1138insC
1 paper
NM_021954.4
p.G379G
c.1137C>T
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."