Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.R147Q

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.R147Q
c.440G>A
Surrounding Variants
1 paper
NM_021954.4
p.R147W
c.439C>T
1 paper
NM_021954.4
p.G143_R147del5
c.427_440del15
1 paper
NM_021954.4
p.L146R
c.437T>G
5 papers
NM_021954.4
p.T148I
c.443C>T
1 paper
NM_021954.4
p.V150I
c.448G>A
1 paper
NM_021954.4
p.V150A
c.449T>C
1 paper
NM_021954.4
p.A144V
c.431C>T
1 paper
NM_021954.4
p.A144T
c.430G>A
7 papers
NM_021954.4
p.G143E
c.428G>A
26 papers
NM_021954.4
p.G143R
c.427G>C
26 papers
NM_021954.4
p.G143R
c.427G>A
1 paper
NM_021954.4
p.N152H
c.454A>C
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