Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.D47A

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
42 papers
NM_005267.5
p.D47A
c.140A>C
Surrounding Variants
48 papers
NM_005267.5
p.D47N
c.139G>A
21 papers
NM_005267.5
p.D47H
c.139G>C
27 papers
NM_005267.5
p.D47Y
c.139G>T
52 papers
NM_005267.5
p.E48K
c.142G>A
1 paper
NM_005267.5
p.G46G
c.138G>A
3 papers
NM_005267.5
p.E48_Q49delFs
c.143_147del5
1 paper
NM_005267.5
p.E48G
c.143A>G
4 papers
NM_005267.5
p.G46E
c.137G>A
1 paper
NM_005267.5
p.G46A
c.137G>C
29 papers
NM_005267.5
p.G46V
c.137G>T
21 papers
NM_005267.5
p.G46R
c.136G>A
20 papers
NM_005267.5
p.G46R
c.136G>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."