Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.G415A

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.G415A
c.1244G>C
Surrounding Variants
1 paper
NM_021954.4
p.R416W
c.1246C>T
1 paper
NM_021954.4
p.R416G
c.1246C>G
1 paper
NM_021954.4
p.R416Q
c.1247G>A
1 paper
NM_021954.4
p.P414S
c.1240C>T
1 paper
NM_021954.4
p.P414A
c.1240C>G
1 paper
NM_021954.4
p.P414T
c.1240C>A
1 paper
NM_021954.4
p.A417T
c.1249G>A
1 paper
NM_021954.4
p.A417V
c.1250C>T
1 paper
NM_021954.4
p.A417G
c.1250C>G
1 paper
NM_021954.4
p.D413N
c.1237G>A
1 paper
NM_021954.4
p.G412*
c.1234G>T
1 paper
NM_021954.4
p.G412R
c.1234G>C
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."