Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.R180H

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.R180H
c.539G>A
Surrounding Variants
1 paper
NM_021954.4
p.R180G
c.538C>G
1 paper
NM_021954.4
p.D182G
c.545A>G
1 paper
NM_021954.4
p.D182E
c.546C>G
1 paper
NM_021954.4
p.D182E
c.546C>A
1 paper
NM_021954.4
p.P177P
c.531G>C
1 paper
NM_021954.4
p.R183G
c.547C>G
1 paper
NM_021954.4
p.R183L
c.548G>T
1 paper
NM_021954.4
p.R183H
c.548G>A
1 paper
NM_021954.4
p.P177L
c.530C>T
1 paper
NM_021954.4
p.P177R
c.530C>G
1 paper
NM_021954.4
p.C186R
c.556T>C
1 paper
NM_021954.4
p.E174Q
c.520G>C
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