Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.G46C

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.G46C
c.136G>T
Surrounding Variants
4 papers
NM_021954.4
p.G46R
c.136G>C
1 paper
NM_021954.4
p.G46S
c.136G>A
9 papers
NM_021954.4
p.G46V
c.137G>T
1 paper
NM_021954.4
p.W45C
c.135G>T
1 paper
NM_021954.4
p.G46A
c.137G>C
1 paper
NM_021954.4
p.W45C
c.135G>C
1 paper
NM_021954.4
p.G46D
c.137G>A
2 papers
NM_021954.4
p.W45L
c.134G>T
20 papers
NM_021954.4
p.W45S
c.134G>C
6 papers
NM_021954.4
p.D47Y
c.139G>T
2 papers
NM_021954.4
p.D47H
c.139G>C
26 papers
NM_021954.4
p.D47N
c.139G>A
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."