Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.G2insFs

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.G2insFs
c.4_5insA
Surrounding Variants
2 papers
NM_000165.5
p.G2S
c.4G>A
2 papers
NM_000165.5
p.G2fs
c.4_5fs
2 papers
NM_000165.5
p.M1I
c.3G>A
2 papers
NM_000165.5
p.M1I
c.3G>C
16 papers
NM_000165.5
p.G2V
c.5G>T
2 papers
NM_000165.5
p.M1I
c.3G>T
3 papers
NM_000165.5
p.G2delFs
c.6delT
1 paper
NM_000165.5
p.G2G
c.6T>A
1 paper
NM_000165.5
p.M1T
c.2T>C
1 paper
NM_000165.5
p.G2G
c.6T>C
1 paper
NM_000165.5
p.M1R
c.2T>G
2 papers
NM_000165.5
p.G2insFs
c.4dupG
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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."