Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.G38W

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.G38W
c.112G>T
Surrounding Variants
8 papers
NM_000165.5
p.G38E
c.113G>A
1 paper
NM_000165.5
p.G38V
c.113G>T
1 paper
NM_000165.5
p.T39delFs
c.115delA
1 paper
NM_000165.5
p.T39A
c.115A>G
1 paper
NM_000165.5
p.T39S
c.115A>T
3 papers
NM_000165.5
p.T39R
c.116C>G
1 paper
NM_000165.5
p.A40E
c.119C>A
2 papers
NM_000165.5
p.A40G
c.119C>G
47 papers
NM_000165.5
p.A40V
c.119C>T
1 paper
NM_000165.5
p.V41_E42del1
c.122_124delTTG
1 paper
NM_000165.5
p.L35M
c.103C>A
1 paper
NM_000165.5
p.L35V
c.103C>G
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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."