Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.R133Q

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.R133Q
c.398G>A
Surrounding Variants
1 paper
NM_021954.4
p.R133P
c.398G>C
1 paper
NM_021954.4
p.R133R
c.399G>A
1 paper
NM_021954.4
p.S132L
c.395C>T
1 paper
NM_021954.4
p.D134V
c.401A>T
2 papers
NM_021954.4
p.D135Y
c.403G>T
2 papers
NM_021954.4
p.D135N
c.403G>A
3 papers
NM_021954.4
p.S131L
c.392C>T
2 papers
NM_021954.4
p.S131P
c.391T>C
1 paper
NM_021954.4
p.R136P
c.407G>C
1 paper
NM_021954.4
p.R136H
c.407G>A
1 paper
NM_021954.4
p.P130L
c.389C>T
1 paper
NM_021954.4
p.G137D
c.410G>A
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