Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.P291L

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.P291L
c.872C>T
Surrounding Variants
1 paper
NM_021954.4
p.A290S
c.868G>T
1 paper
NM_021954.4
p.A290T
c.868G>A
1 paper
NM_021954.4
p.P293A
c.877C>G
1 paper
NM_021954.4
p.G289R
c.865G>C
1 paper
NM_021954.4
p.G289R
c.865G>A
1 paper
NM_021954.4
p.P293P
c.879A>T
1 paper
NM_021954.4
p.P288H
c.863C>A
1 paper
NM_021954.4
p.P288S
c.862C>T
1 paper
NM_021954.4
p.A295T
c.883G>A
1 paper
NM_021954.4
p.A295V
c.884C>T
1 paper
NM_021954.4
p.Y287S
c.860A>C
1 paper
NM_021954.4
p.Y287H
c.859T>C
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