Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.G327G

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
1 paper
NM_005267.5
p.G327G
c.981G>T
Surrounding Variants
1 paper
NM_005267.5
p.A328T
c.982G>A
2 papers
NM_005267.5
p.A328S
c.982G>T
1 paper
NM_005267.5
p.A328V
c.983C>T
1 paper
NM_005267.5
p.V326V
c.978G>A
1 paper
NM_005267.5
p.Q329*
c.985C>T
1 paper
NM_005267.5
p.Q329Q
c.987A>G
1 paper
NM_005267.5
p.A324V
c.971C>T
2 papers
NM_005267.5
p.E332K
c.994G>A
3 papers
NM_005267.5
p.G333R
c.997G>C
1 paper
NM_005267.5
p.E334K
c.1000G>A
1 paper
NM_005267.5
p.P336L
c.1007C>T
1 paper
NM_005267.5
p.Q317*
c.949C>T
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