Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.E110D

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
2 papers
NM_005267.5
p.E110D
c.330G>T
Surrounding Variants
2 papers
NM_005267.5
p.E110D
c.330G>C
1 paper
NM_005267.5
p.E110delins
c.329delinsT
1 paper
NM_005267.5
p.E110K
c.328G>A
1 paper
NM_005267.5
p.E110Fs
c.328_329delinsTFs
2 papers
NM_005267.5
p.E112K
c.334G>A
1 paper
NM_005267.5
p.R109H
c.326G>A
1 paper
NM_005267.5
p.R109S
c.325C>A
1 paper
NM_005267.5
p.K107R
c.320A>G
1 paper
NM_005267.5
p.L114insFs
c.341dupT
2 papers
NM_005267.5
p.L114P
c.341T>C
2 papers
NM_005267.5
p.R106H
c.317G>A
2 papers
NM_005267.5
p.R106C
c.316C>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."