Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.D51Y

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.D51Y
c.151G>T
Surrounding Variants
14 papers
NM_005267.5
p.D51N
c.151G>A
1 paper
NM_005267.5
p.D51E
c.153C>A
1 paper
NM_005267.5
p.D51E
c.153C>G
2 papers
NM_005267.5
p.F52I
c.154T>A
33 papers
NM_005267.5
p.S50P
c.148T>C
5 papers
NM_005267.5
p.F52L
c.154T>C
1 paper
NM_005267.5
p.Q49H
c.147A>C
1 paper
NM_005267.5
p.Q49H
c.147A>T
1 paper
NM_005267.5
p.Q49P
c.146A>C
5 papers
NM_005267.5
p.F52L
c.156C>A
5 papers
NM_005267.5
p.F52L
c.156C>G
2 papers
NM_005267.5
p.F52F
c.156C>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."