Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.V264G

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.V264G
c.791T>G
Surrounding Variants
1 paper
NM_021954.4
p.V264I
c.790G>A
1 paper
NM_021954.4
p.A265T
c.793G>A
1 paper
NM_021954.4
p.A263T
c.787G>A
1 paper
NM_021954.4
p.P262L
c.785C>T
1 paper
NM_021954.4
p.P262S
c.784C>T
1 paper
NM_021954.4
p.G267R
c.799G>C
1 paper
NM_021954.4
p.G267R
c.799G>A
1 paper
NM_021954.4
p.P261L
c.782C>T
1 paper
NM_021954.4
p.P261S
c.781C>T
1 paper
NM_021954.4
p.P261T
c.781C>A
1 paper
NM_021954.4
p.R260W
c.778C>T
1 paper
NM_021954.4
p.P269S
c.805C>T
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