Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.G60G

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.G60G
c.180C>A
Surrounding Variants
2 papers
NM_021954.4
p.G60R
c.178G>C
1 paper
NM_021954.4
p.P59P
c.177G>C
2 papers
NM_021954.4
p.C61C
c.183C>T
5 papers
NM_021954.4
p.E62K
c.184G>A
32 papers
NM_021954.4
p.P59L
c.176C>T
3 papers
NM_021954.4
p.P59A
c.175C>G
1 paper
NM_021954.4
p.E62D
c.186G>T
1 paper
NM_021954.4
p.Q58H
c.174G>T
1 paper
NM_021954.4
p.E62D
c.186G>C
1 paper
NM_021954.4
p.Q58H
c.174G>C
2 papers
NM_021954.4
p.Q58R
c.173A>G
2 papers
NM_021954.4
p.Q58*
c.172C>T
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