Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.G226A

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.G226A
c.677G>C
Surrounding Variants
1 paper
NM_021954.4
p.W227insFs
c.679_680insAG
1 paper
NM_021954.4
p.W227R
c.679T>C
1 paper
NM_021954.4
p.W227R
c.679T>A
1 paper
NM_021954.4
p.L225V
c.673C>G
2 papers
NM_021954.4
p.H224R
c.671A>G
1 paper
NM_021954.4
p.K228K
c.684G>A
2 papers
NM_021954.4
p.H224insFs
c.670_671insA
1 paper
NM_021954.4
p.L230I
c.688C>A
1 paper
NM_021954.4
p.K231R
c.692A>G
1 paper
NM_021954.4
p.L220Q
c.659T>A
1 paper
NM_021954.4
p.Q232L
c.695A>T
1 paper
NM_021954.4
p.L220L
c.658C>T
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