Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.Q387H

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.Q387H
c.1161G>T
Surrounding Variants
1 paper
NM_005267.5
p.Q387H
c.1161G>C
1 paper
NM_005267.5
p.Q387K
c.1159C>A
1 paper
NM_005267.5
p.Q387*
c.1159C>T
1 paper
NM_005267.5
p.S388_K390del3
c.1162_1169del9
1 paper
NM_005267.5
p.S388S
c.1164G>A
1 paper
NM_005267.5
p.E389K
c.1165G>A
2 papers
NM_005267.5
p.K390R
c.1169A>G
1 paper
NM_005267.5
p.E385insFs
c.1153_1154insG
1 paper
NM_005267.5
p.K383R
c.1148A>G
1 paper
NM_005267.5
p.Q394Q
c.1182A>G
2 papers
NM_005267.5
p.K379_E380insFs
c.1137_1138insC
1 paper
NM_005267.5
p.K379_E380delFs
c.1136_1139del4
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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."