Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.D296E

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.D296E
c.888C>A
Surrounding Variants
1 paper
NM_021954.4
p.D296E
c.888C>G
1 paper
NM_021954.4
p.F297L
c.889T>C
1 paper
NM_021954.4
p.D296Y
c.886G>T
1 paper
NM_021954.4
p.F297L
c.891C>G
1 paper
NM_021954.4
p.F297L
c.891C>A
1 paper
NM_021954.4
p.A295V
c.884C>T
1 paper
NM_021954.4
p.A295T
c.883G>A
1 paper
NM_021954.4
p.K298R
c.893A>G
7 papers
NM_021954.4
p.L299M
c.895C>A
1 paper
NM_021954.4
p.P293P
c.879A>T
1 paper
NM_021954.4
p.L300L
c.898C>T
1 paper
NM_021954.4
p.L300V
c.898C>G
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