Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.S311delFs

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.S311delFs
c.932delG
Surrounding Variants
2 papers
NM_021954.4
p.G309C
c.925G>T
2 papers
NM_021954.4
p.G309_Q310insA
c.925_929ins3
1 paper
NM_021954.4
p.Y315C
c.944A>G
1 paper
NM_021954.4
p.K308R
c.923A>G
1 paper
NM_021954.4
p.N316Y
c.946A>T
1 paper
NM_021954.4
p.N316S
c.947A>G
1 paper
NM_021954.4
p.G317R
c.949G>C
1 paper
NM_021954.4
p.G307R
c.919G>C
1 paper
NM_021954.4
p.G317S
c.949G>A
1 paper
NM_021954.4
p.G307R
c.919G>A
2 papers
NM_021954.4
p.G317insFs
c.950dupG
1 paper
NM_021954.4
p.R306C
c.916C>T
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