Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.M147I

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.M147I
c.441G>A
Surrounding Variants
1 paper
NM_000165.5
p.M147I
c.441G>C
1 paper
NM_000165.5
p.M147I
c.441G>T
4 papers
NM_000165.5
p.R148G
c.442C>G
4 papers
NM_000165.5
p.R148*
c.442C>T
9 papers
NM_000165.5
p.M147T
c.440T>C
1 paper
NM_000165.5
p.M147L
c.439A>C
1 paper
NM_000165.5
p.M147L
c.439A>T
19 papers
NM_000165.5
p.R148Q
c.443G>A
5 papers
NM_000165.5
p.V145G
c.434T>G
1 paper
NM_000165.5
p.V145M
c.433G>A
1 paper
NM_000165.5
p.K144K
c.432G>A
1 paper
NM_000165.5
p.G150G
c.450G>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."