Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.P291insFs

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.P291insFs
c.872dupC
Surrounding Variants
1 paper
NM_005267.5
p.S290G
c.868A>G
1 paper
NM_005267.5
p.T289I
c.866C>T
1 paper
NM_005267.5
p.T289insFs
c.866_867insC
2 papers
NM_005267.5
p.L292Q
c.875T>A
1 paper
NM_005267.5
p.M286fs
c.856_857fs
1 paper
NM_005267.5
p.M286delFs
c.856delA
2 papers
NM_005267.5
p.G285delFs
c.855delG
2 papers
NM_005267.5
p.Q299K
c.895C>A
1 paper
NM_005267.5
p.Q299*
c.895C>T
2 papers
NM_005267.5
p.L281S
c.842T>C
2 papers
NM_005267.5
p.P280R
c.839C>G
1 paper
NM_005267.5
p.P280L
c.839C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."