Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.E162K

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
7 papers
NM_005267.5
p.E162K
c.484G>A
Surrounding Variants
1 paper
NM_005267.5
p.L160L
c.480C>G
1 paper
NM_005267.5
p.L160R
c.479T>G
1 paper
NM_005267.5
p.T159delFs
c.475_476delAC
1 paper
NM_005267.5
p.V167M
c.499G>A
1 paper
NM_005267.5
p.V167L
c.499G>C
1 paper
NM_005267.5
p.V167G
c.500T>G
1 paper
NM_005267.5
p.I156V
c.466A>G
1 paper
NM_005267.5
p.G168R
c.502G>C
1 paper
NM_005267.5
p.H169Y
c.505C>T
4 papers
NM_005267.5
p.H154D
c.460C>G
1 paper
NM_005267.5
p.Y170insFs
c.509_510insA
1 paper
NM_005267.5
p.Y170*
c.510C>G
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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."