Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.S378N

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.S378N
c.1133G>A
Surrounding Variants
1 paper
NM_021954.4
p.G379C
c.1135G>T
1 paper
NM_021954.4
p.G379S
c.1135G>A
1 paper
NM_021954.4
p.G377R
c.1129G>C
1 paper
NM_021954.4
p.G377R
c.1129G>A
1 paper
NM_021954.4
p.G379G
c.1137C>T
4 papers
NM_021954.4
p.S380fs
c.1138_1139fs
18 papers
NM_021954.4
p.G379_S380insFs
c.1137_1138insC
1 paper
NM_021954.4
p.D376fs
c.1126_1127fs
1 paper
NM_021954.4
p.D376Y
c.1126G>T
5 papers
NM_021954.4
p.S380fs
c.1138_1139fs
1 paper
NM_021954.4
p.D376_S380delFs
c.1126_1139del14
1 paper
NM_021954.4
p.S381fs
c.1141_1142fs
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