Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.P88S

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
13 papers
NM_021954.4
p.P88S
c.262C>T
Surrounding Variants
7 papers
NM_021954.4
p.P88T
c.262C>A
5 papers
NM_021954.4
p.P88L
c.263C>T
17 papers
NM_021954.4
p.T87M
c.260C>T
1 paper
NM_021954.4
p.P88P
c.264C>T
1 paper
NM_021954.4
p.P88P
c.264C>A
2 papers
NM_021954.4
p.T89S
c.265A>T
1 paper
NM_021954.4
p.T87A
c.259A>G
1 paper
NM_021954.4
p.T89P
c.265A>C
1 paper
NM_021954.4
p.T89S
c.266C>G
1 paper
NM_021954.4
p.S86C
c.257C>G
1 paper
NM_021954.4
p.S86Y
c.257C>A
1 paper
NM_021954.4
p.S86delFs
c.256delA
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