Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.P88Q

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
39 papers
NM_005267.5
p.P88Q
c.263C>A
Surrounding Variants
1 paper
NM_005267.5
p.P88R
c.263C>G
5 papers
NM_005267.5
p.P88L
c.263C>T
22 papers
NM_005267.5
p.P88T
c.262C>A
1 paper
NM_005267.5
p.P88A
c.262C>G
71 papers
NM_005267.5
p.P88S
c.262C>T
1 paper
NM_005267.5
p.S89T
c.265T>A
1 paper
NM_005267.5
p.T87I
c.260C>T
1 paper
NM_005267.5
p.S89F
c.266C>T
4 papers
NM_005267.5
p.L90V
c.268C>G
1 paper
NM_005267.5
p.S86Y
c.257C>A
1 paper
NM_005267.5
p.Y92Y
c.276C>T
1 paper
NM_005267.5
p.V93M
c.277G>A
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