Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.S357R

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.S357R
c.1071C>G
Surrounding Variants
1 paper
NM_021954.4
p.S357R
c.1071C>A
1 paper
NM_021954.4
p.S357R
c.1069A>C
1 paper
NM_021954.4
p.S359P
c.1075T>C
1 paper
NM_021954.4
p.G356S
c.1066G>A
1 paper
NM_021954.4
p.S359Y
c.1076C>A
1 paper
NM_021954.4
p.P360S
c.1078C>T
2 papers
NM_021954.4
p.V355F
c.1063G>T
1 paper
NM_021954.4
p.P360L
c.1079C>T
1 paper
NM_021954.4
p.P361L
c.1082C>T
1 paper
NM_021954.4
p.P354S
c.1060C>T
1 paper
NM_021954.4
p.P354A
c.1060C>G
1 paper
NM_021954.4
p.P354T
c.1060C>A
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