Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.F6F

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.F6F
c.18C>T
Surrounding Variants
1 paper
NM_005267.5
p.L7M
c.19C>A
4 papers
NM_005267.5
p.L7V
c.19C>G
1 paper
NM_005267.5
p.L7_L11del0
c.21_32del12
9 papers
NM_005267.5
p.L7Q
c.20T>A
13 papers
NM_005267.5
p.L7P
c.20T>C
1 paper
NM_005267.5
p.L7_G8delFs
c.21_24del4
1 paper
NM_005267.5
p.S5N
c.14G>A
1 paper
NM_005267.5
p.G8R
c.22G>A
2 papers
NM_005267.5
p.G8R
c.22G>C
1 paper
NM_005267.5
p.S5delFs
c.15delT
3 papers
NM_005267.5
p.G8E
c.23G>A
2 papers
NM_005267.5
p.W4C
c.12G>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."