Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.P197S

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
8 papers
NM_021954.4
p.P197S
c.589C>T
Surrounding Variants
1 paper
NM_021954.4
p.T198M
c.593C>T
1 paper
NM_021954.4
p.S195F
c.584C>T
1 paper
NM_021954.4
p.E199K
c.595G>A
5 papers
NM_021954.4
p.E199A
c.596A>C
1 paper
NM_021954.4
p.F193F
c.579C>T
1 paper
NM_021954.4
p.F193L
c.579C>G
1 paper
NM_021954.4
p.F193L
c.579C>A
6 papers
NM_021954.4
p.F193S
c.578T>C
1 paper
NM_021954.4
p.F193insFs
c.577_578insG
1 paper
NM_021954.4
p.F193L
c.577T>C
2 papers
NM_021954.4
p.D191N
c.571G>A
1 paper
NM_021954.4
p.V190G
c.569T>G
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