Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.E205K

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.E205K
c.613G>A
Surrounding Variants
1 paper
NM_000165.5
p.T204T
c.612G>A
1 paper
NM_000165.5
p.T204A
c.610A>G
5 papers
NM_000165.5
p.K206R
c.617A>G
33 papers
NM_000165.5
p.R202H
c.605G>A
1 paper
NM_000165.5
p.R202L
c.605G>T
1 paper
NM_000165.5
p.R202C
c.604C>T
3 papers
NM_000165.5
p.S201Y
c.602C>A
6 papers
NM_000165.5
p.S201F
c.602C>T
3 papers
NM_000165.5
p.I208I
c.624C>T
2 papers
NM_000165.5
p.F209I
c.625T>A
1 paper
NM_000165.5
p.S201delFs
c.601delT
3 papers
NM_000165.5
p.F199L
c.597C>A
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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."