Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.E339E

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.E339E
c.1017G>A
Surrounding Variants
1 paper
NM_005267.5
p.E340Q
c.1018G>C
1 paper
NM_005267.5
p.P336L
c.1007C>T
1 paper
NM_005267.5
p.E343K
c.1027G>A
1 paper
NM_005267.5
p.E334K
c.1000G>A
3 papers
NM_005267.5
p.G333R
c.997G>C
1 paper
NM_005267.5
p.V346V
c.1038G>T
2 papers
NM_005267.5
p.E332K
c.994G>A
1 paper
NM_005267.5
p.K349E
c.1045A>G
1 paper
NM_005267.5
p.Q329Q
c.987A>G
1 paper
NM_005267.5
p.Q329*
c.985C>T
1 paper
NM_005267.5
p.A328V
c.983C>T
1 paper
NM_005267.5
p.A328T
c.982G>A
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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."