Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.A363G

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.A363G
c.1088C>G
Surrounding Variants
2 papers
NM_021954.4
p.A363V
c.1088C>T
1 paper
NM_021954.4
p.A363T
c.1087G>A
1 paper
NM_021954.4
p.H364Q
c.1092C>G
1 paper
NM_021954.4
p.L362V
c.1084C>G
1 paper
NM_021954.4
p.H364Q
c.1092C>A
1 paper
NM_021954.4
p.E365K
c.1093G>A
1 paper
NM_021954.4
p.P361L
c.1082C>T
1 paper
NM_021954.4
p.P360L
c.1079C>T
1 paper
NM_021954.4
p.A366G
c.1097C>G
1 paper
NM_021954.4
p.P360S
c.1078C>T
1 paper
NM_021954.4
p.E367Q
c.1099G>C
1 paper
NM_021954.4
p.S359Y
c.1076C>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."