Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.E395G

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.E395G
c.1184A>G
Surrounding Variants
1 paper
NM_021954.4
p.E395K
c.1183G>A
1 paper
NM_021954.4
p.E394K
c.1180G>A
1 paper
NM_021954.4
p.E393D
c.1179G>T
1 paper
NM_021954.4
p.E393D
c.1179G>C
4 papers
NM_021954.4
p.A397fs
c.1189_1190fs
1 paper
NM_021954.4
p.A397V
c.1190C>T
4 papers
NM_021954.4
p.A397insFs
c.1189dupG
1 paper
NM_021954.4
p.E393G
c.1178A>G
1 paper
NM_021954.4
p.A397fs
c.1189_1190fs
1 paper
NM_021954.4
p.V398M
c.1192G>A
1 paper
NM_021954.4
p.E392A
c.1175A>C
1 paper
NM_021954.4
p.V398_T399insFs
c.1194_1195insC
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