Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.F30insFs

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
4 papers
NM_005267.5
p.F30insFs
c.89dupT
Surrounding Variants
1 paper
NM_005267.5
p.L29I
c.85C>A
1 paper
NM_005267.5
p.V28V
c.84G>A
8 papers
NM_005267.5
p.V28M
c.82G>A
1 paper
NM_005267.5
p.V28L
c.82G>C
1 paper
NM_005267.5
p.V28L
c.82G>T
3 papers
NM_005267.5
p.I31fs
c.91_92fs
18 papers
NM_005267.5
p.I31T
c.92T>C
4 papers
NM_005267.5
p.I31M
c.93C>G
2 papers
NM_005267.5
p.L26P
c.77T>C
5 papers
NM_005267.5
p.F32I
c.94T>A
10 papers
NM_005267.5
p.F32L
c.94T>C
8 papers
NM_005267.5
p.F32L
c.96C>A
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