Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.S258G

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.S258G
c.772A>G
Surrounding Variants
2 papers
NM_021954.4
p.S258fs
c.772_773fs
1 paper
NM_021954.4
p.S258R
c.772A>C
2 papers
NM_021954.4
p.P257insFs
c.771dupC
1 paper
NM_021954.4
p.S258T
c.773G>C
1 paper
NM_021954.4
p.S258R
c.774C>G
1 paper
NM_021954.4
p.S258R
c.774C>A
1 paper
NM_021954.4
p.P257H
c.770C>A
1 paper
NM_021954.4
p.S259F
c.776C>T
2 papers
NM_021954.4
p.S259insFs
c.776_777insG
4 papers
NM_021954.4
p.S259Y
c.776C>A
1 paper
NM_021954.4
p.P256L
c.767C>T
1 paper
NM_021954.4
p.P256H
c.767C>A
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