Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.E13D

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.E13D
c.39G>C
Surrounding Variants
1 paper
NM_005267.5
p.E13E
c.39G>A
2 papers
NM_005267.5
p.E13D
c.39G>T
1 paper
NM_005267.5
p.V14A
c.41T>C
1 paper
NM_005267.5
p.N15H
c.43A>C
1 paper
NM_005267.5
p.E12Q
c.34G>C
1 paper
NM_005267.5
p.E12*
c.34G>T
1 paper
NM_005267.5
p.E16K
c.46G>A
3 papers
NM_005267.5
p.E16Q
c.46G>C
7 papers
NM_005267.5
p.L11S
c.32T>C
1 paper
NM_005267.5
p.E16A
c.47A>C
1 paper
NM_005267.5
p.L11insFs
c.32dupT
1 paper
NM_005267.5
p.H17Y
c.49C>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."