Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.P372S

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.P372S
c.1114C>T
Surrounding Variants
1 paper
NM_021954.4
p.P372A
c.1114C>G
1 paper
NM_021954.4
p.A371T
c.1111G>A
2 papers
NM_021954.4
p.L373L
c.1117C>T
1 paper
NM_021954.4
p.A370S
c.1108G>T
1 paper
NM_021954.4
p.A370T
c.1108G>A
1 paper
NM_021954.4
p.L373delFs
c.1119delC
1 paper
NM_021954.4
p.L374R
c.1121T>G
1 paper
NM_021954.4
p.D376fs
c.1126_1127fs
1 paper
NM_021954.4
p.D376Y
c.1126G>T
1 paper
NM_021954.4
p.A368P
c.1102G>C
1 paper
NM_021954.4
p.A368T
c.1102G>A
1 paper
NM_021954.4
p.G377R
c.1129G>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."