Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.R237C

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.R237C
c.709C>T
Surrounding Variants
1 paper
NM_021954.4
p.R237S
c.709C>A
1 paper
NM_021954.4
p.R237H
c.710G>A
1 paper
NM_021954.4
p.S236N
c.707G>A
1 paper
NM_021954.4
p.G239R
c.715G>C
1 paper
NM_021954.4
p.G239V
c.716G>T
1 paper
NM_021954.4
p.P240A
c.718C>G
1 paper
NM_021954.4
p.P240insFs
c.718_719insG
1 paper
NM_021954.4
p.P240L
c.719C>T
1 paper
NM_021954.4
p.P240R
c.719C>G
1 paper
NM_021954.4
p.D241Y
c.721G>T
1 paper
NM_021954.4
p.D241N
c.721G>A
1 paper
NM_021954.4
p.D241G
c.722A>G
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