Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.S276F

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
35 papers
NM_005267.5
p.S276F
c.827C>T
Surrounding Variants
7 papers
NM_005267.5
p.H277Y
c.829C>T
6 papers
NM_005267.5
p.V275I
c.823G>A
1 paper
NM_005267.5
p.I274I
c.822C>A
2 papers
NM_005267.5
p.I274M
c.822C>G
1 paper
NM_005267.5
p.Y278F
c.833A>T
1 paper
NM_005267.5
p.F279_L281del3
c.835_842del9
2 papers
NM_005267.5
p.P280R
c.839C>G
1 paper
NM_005267.5
p.P280L
c.839C>T
2 papers
NM_005267.5
p.L281S
c.842T>C
1 paper
NM_005267.5
p.E270K
c.808G>A
1 paper
NM_005267.5
p.L269P
c.806T>C
3 papers
NM_005267.5
p.L268L
c.804C>T
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