Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.D3E

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.D3E
c.9C>G
Surrounding Variants
4 papers
NM_005267.5
p.D3E
c.9C>A
6 papers
NM_005267.5
p.W4R
c.10T>A
6 papers
NM_005267.5
p.W4R
c.10T>C
8 papers
NM_005267.5
p.D3N
c.7G>A
5 papers
NM_005267.5
p.D3Y
c.7G>T
2 papers
NM_005267.5
p.W4C
c.12G>C
1 paper
NM_005267.5
p.W4C
c.12G>T
4 papers
NM_005267.5
p.G2V
c.5G>T
1 paper
NM_005267.5
p.G2S
c.4G>A
1 paper
NM_005267.5
p.S5N
c.14G>A
1 paper
NM_005267.5
p.S5delFs
c.15delT
3 papers
NM_005267.5
p.M1T
c.2T>C
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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."