Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.G143R

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
26 papers
NM_021954.4
p.G143R
c.427G>A
Surrounding Variants
26 papers
NM_021954.4
p.G143R
c.427G>C
7 papers
NM_021954.4
p.G143E
c.428G>A
1 paper
NM_021954.4
p.A142S
c.424G>T
1 paper
NM_021954.4
p.A144T
c.430G>A
1 paper
NM_021954.4
p.A142T
c.424G>A
1 paper
NM_021954.4
p.A144V
c.431C>T
1 paper
NM_021954.4
p.R140L
c.419G>T
1 paper
NM_021954.4
p.R140H
c.419G>A
2 papers
NM_021954.4
p.R140C
c.418C>T
1 paper
NM_021954.4
p.L146R
c.437T>G
13 papers
NM_021954.4
p.V139M
c.415G>A
1 paper
NM_021954.4
p.R147W
c.439C>T
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