Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.V28L

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
3 papers
NM_021954.4
p.V28L
c.82G>T
Surrounding Variants
3 papers
NM_021954.4
p.V28L
c.82G>C
20 papers
NM_021954.4
p.V28M
c.82G>A
3 papers
NM_021954.4
p.V28V
c.84G>A
1 paper
NM_021954.4
p.L29V
c.85C>G
1 paper
NM_021954.4
p.F30L
c.88T>C
1 paper
NM_021954.4
p.W25L
c.74G>T
1 paper
NM_021954.4
p.F30L
c.90C>G
1 paper
NM_021954.4
p.F30insFs
c.89dupT
1 paper
NM_021954.4
p.F30L
c.90C>A
1 paper
NM_021954.4
p.I31fs
c.91_92fs
1 paper
NM_021954.4
p.I31F
c.91A>T
5 papers
NM_021954.4
p.I31T
c.92T>C
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