Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.T399insFs

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.T399insFs
c.1196dupC
Surrounding Variants
3 papers
NM_021954.4
p.T400insFs
c.1200dupC
1 paper
NM_021954.4
p.A401T
c.1201G>A
1 paper
NM_021954.4
p.A401fs
c.1201_1202fs
1 paper
NM_021954.4
p.V398_T399insFs
c.1194_1195insC
1 paper
NM_021954.4
p.A401V
c.1202C>T
1 paper
NM_021954.4
p.A402T
c.1204G>A
1 paper
NM_021954.4
p.V398M
c.1192G>A
1 paper
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.Q403*
c.1207C>T
1 paper
NM_021954.4
p.Q403E
c.1207C>G
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