Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.G162S

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.G162S
c.484G>A
Surrounding Variants
1 paper
NM_021954.4
p.G162C
c.484G>T
1 paper
NM_021954.4
p.G162G
c.486C>T
1 paper
NM_021954.4
p.F159L
c.477C>G
1 paper
NM_021954.4
p.F159L
c.477C>A
1 paper
NM_021954.4
p.F159L
c.475T>C
1 paper
NM_021954.4
p.A165P
c.493G>C
1 paper
NM_021954.4
p.A165V
c.494C>T
1 paper
NM_021954.4
p.A165G
c.494C>G
1 paper
NM_021954.4
p.T157T
c.471G>A
1 paper
NM_021954.4
p.T157M
c.470C>T
1 paper
NM_021954.4
p.T157K
c.470C>A
1 paper
NM_021954.4
p.T157S
c.469A>T
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