Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.N152H

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.N152H
c.454A>C
Surrounding Variants
1 paper
NM_021954.4
p.N152I
c.455A>T
1 paper
NM_021954.4
p.I153V
c.457A>G
1 paper
NM_021954.4
p.V150A
c.449T>C
1 paper
NM_021954.4
p.V150I
c.448G>A
1 paper
NM_021954.4
p.F155V
c.463T>G
5 papers
NM_021954.4
p.T148I
c.443C>T
4 papers
NM_021954.4
p.K156Q
c.466A>C
1 paper
NM_021954.4
p.G143_R147del5
c.427_440del15
1 paper
NM_021954.4
p.K156R
c.467A>G
1 paper
NM_021954.4
p.R147Q
c.440G>A
1 paper
NM_021954.4
p.R147W
c.439C>T
1 paper
NM_021954.4
p.T157S
c.469A>T
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