Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.V64G

GJA8

505 papers

RefSeq Summary

This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a ...

Pfam Domains

Connexinaa 3–229UCSCConnexin
Connexin50aa 260–326UCSCGap junction alpha-8 protein (Cx50)

Gene Aliases

HGNC Name

gap junction protein alpha 8

HGNC Previous Symbols

CAE1; CZP1; CAE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
30 papers
NM_005267.5
p.V64G
c.191T>G
Surrounding Variants
11 papers
NM_005267.5
p.V64A
c.191T>C
1 paper
NM_005267.5
p.V64V
c.192C>T
2 papers
NM_005267.5
p.V64I
c.190G>A
2 papers
NM_005267.5
p.N63K
c.189C>A
1 paper
NM_005267.5
p.N63K
c.189C>G
1 paper
NM_005267.5
p.N63N
c.189C>T
11 papers
NM_005267.5
p.N63S
c.188A>G
1 paper
NM_005267.5
p.Y66H
c.196T>C
1 paper
NM_005267.5
p.Y66D
c.196T>G
1 paper
NM_005267.5
p.Y66S
c.197A>C
1 paper
NM_005267.5
p.Y66C
c.197A>G
10 papers
NM_005267.5
p.D67G
c.200A>G
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