Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.K264T

GJA1

843 papers

RefSeq Summary

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of...

Pfam Domains

Connexinaa 3–233UCSCConnexin
Connexin43aa 283–361UCSCGap junction alpha-1 protein (Cx43)

Gene Aliases

HGNC Name

gap junction protein alpha 1

HGNC Previous Symbols

ODDD; GJAL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000165.5
p.K264T
c.791A>C
Surrounding Variants
2 papers
NM_000165.5
p.K264R
c.791A>G
3 papers
NM_000165.5
p.K264fs
c.790_791fs
1 paper
NM_000165.5
p.Y265D
c.793T>G
8 papers
NM_000165.5
p.Y265F
c.794A>T
3 papers
NM_000165.5
p.K264delFs
c.791_792delAA
1 paper
NM_000165.5
p.S262S
c.786T>C
9 papers
NM_000165.5
p.S262A
c.784T>G
1 paper
NM_000165.5
p.Y267F
c.800A>T
1 paper
NM_000165.5
p.G261E
c.782G>A
1 paper
NM_000165.5
p.G261W
c.781G>T
1 paper
NM_000165.5
p.C260W
c.780T>G
1 paper
NM_000165.5
p.C260S
c.779G>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."