Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.A39V

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
2 papers
NM_021954.4
p.A39V
c.116C>T
Surrounding Variants
1 paper
NM_021954.4
p.A39G
c.116C>G
1 paper
NM_021954.4
p.A39T
c.115G>A
1 paper
NM_021954.4
p.A40T
c.118G>A
1 paper
NM_021954.4
p.G38E
c.113G>A
9 papers
NM_021954.4
p.A40V
c.119C>T
4 papers
NM_021954.4
p.A40G
c.119C>G
1 paper
NM_021954.4
p.A40E
c.119C>A
1 paper
NM_021954.4
p.A41V
c.122C>T
1 paper
NM_021954.4
p.E42Q
c.124G>C
8 papers
NM_021954.4
p.E42K
c.124G>A
6 papers
NM_021954.4
p.E42A
c.125A>C
1 paper
NM_021954.4
p.D43Y
c.127G>T
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