Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.N190K

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
1 paper
NM_005267.5
p.N190K
c.570T>G
Surrounding Variants
1 paper
NM_005267.5
p.N190K
c.570T>A
1 paper
NM_005267.5
p.N190T
c.569A>C
4 papers
NM_005267.5
p.N190S
c.569A>G
1 paper
NM_005267.5
p.V191V
c.573G>A
1 paper
NM_005267.5
p.P189R
c.566C>G
25 papers
NM_005267.5
p.P189L
c.566C>T
3 papers
NM_005267.5
p.P189A
c.565C>G
11 papers
NM_005267.5
p.P189S
c.565C>T
10 papers
NM_005267.5
p.P187L
c.560C>T
4 papers
NM_005267.5
p.P187S
c.559C>T
1 paper
NM_005267.5
p.W186R
c.556T>C
1 paper
NM_005267.5
p.F195S
c.584T>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."