Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.G127G

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.G127G
c.381C>A
Surrounding Variants
1 paper
NM_005267.5
p.S128N
c.383G>A
1 paper
NM_005267.5
p.V129I
c.385G>A
1 paper
NM_005267.5
p.Q126*
c.376C>T
1 paper
NM_005267.5
p.K130del1
c.388_390delAAG
1 paper
NM_005267.5
p.G123D
c.368G>A
3 papers
NM_005267.5
p.G123S
c.367G>A
1 paper
NM_005267.5
p.S133_R142del10
c.397_425del30
1 paper
NM_005267.5
p.G122S
c.364G>A
1 paper
NM_005267.5
p.G119E
c.356G>A
2 papers
NM_005267.5
p.A118E
c.353C>A
1 paper
NM_005267.5
p.G119delFs
c.356delG
1 paper
NM_005267.5
p.G137A
c.410G>C
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