Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.E227D

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
13 papers
NM_000165.5
p.E227D
c.681A>C
Surrounding Variants
13 papers
NM_000165.5
p.E227D
c.681A>T
1 paper
NM_000165.5
p.E227G
c.680A>G
1 paper
NM_000165.5
p.L228F
c.682C>T
1 paper
NM_000165.5
p.L228L
c.684C>A
1 paper
NM_000165.5
p.F229I
c.685T>A
1 paper
NM_000165.5
p.I225I
c.675C>T
1 paper
NM_000165.5
p.Y230delFs
c.689_690delAT
3 papers
NM_000165.5
p.Y230fs
c.688_689fs
1 paper
NM_000165.5
p.Y230*
c.690T>G
1 paper
NM_000165.5
p.V231I
c.691G>A
1 paper
NM_000165.5
p.N224insFs
c.670_671insA
1 paper
NM_000165.5
p.F232I
c.694T>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."