Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.P71S

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.P71S
c.211C>T
Surrounding Variants
4 papers
NM_005267.5
p.F70L
c.210T>A
4 papers
NM_005267.5
p.F70L
c.210T>G
1 paper
NM_005267.5
p.F70I
c.208T>A
4 papers
NM_005267.5
p.F70L
c.208T>C
1 paper
NM_005267.5
p.F70V
c.208T>G
3 papers
NM_005267.5
p.A69T
c.205G>A
6 papers
NM_005267.5
p.S73P
c.217T>C
1 paper
NM_005267.5
p.S73fs
c.217_218fs
19 papers
NM_005267.5
p.S73F
c.218C>T
1 paper
NM_005267.5
p.H74P
c.221A>C
2 papers
NM_005267.5
p.H74L
c.221A>T
1 paper
NM_005267.5
p.D67D
c.201C>T
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