Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.N316S

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.N316S
c.947A>G
Surrounding Variants
1 paper
NM_021954.4
p.N316Y
c.946A>T
1 paper
NM_021954.4
p.G317R
c.949G>C
1 paper
NM_021954.4
p.G317S
c.949G>A
1 paper
NM_021954.4
p.Y315C
c.944A>G
2 papers
NM_021954.4
p.G317insFs
c.950dupG
1 paper
NM_021954.4
p.H318fs
c.952_953fs
1 paper
NM_021954.4
p.H318R
c.953A>G
1 paper
NM_021954.4
p.H318Q
c.954C>G
1 paper
NM_021954.4
p.H318Q
c.954C>A
1 paper
NM_021954.4
p.H320Y
c.958C>T
1 paper
NM_021954.4
p.H320D
c.958C>G
1 paper
NM_021954.4
p.S311delFs
c.932delG
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