Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.W4R

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
2 papers
NM_021954.4
p.W4R
c.10T>C
Surrounding Variants
2 papers
NM_021954.4
p.W4R
c.10T>A
2 papers
NM_021954.4
p.D3E
c.9C>G
2 papers
NM_021954.4
p.D3E
c.9C>A
2 papers
NM_021954.4
p.D3G
c.8A>G
1 paper
NM_021954.4
p.D3A
c.8A>C
25 papers
NM_021954.4
p.D3Y
c.7G>T
5 papers
NM_021954.4
p.D3H
c.7G>C
6 papers
NM_021954.4
p.D3N
c.7G>A
1 paper
NM_021954.4
p.S5R
c.13A>C
1 paper
NM_021954.4
p.S5N
c.14G>A
1 paper
NM_021954.4
p.G2G
c.6C>T
2 papers
NM_021954.4
p.G2V
c.5G>T
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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."