Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.R189delFs

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.R189delFs
c.565delA
Surrounding Variants
2 papers
NM_000165.5
p.C187*
c.561C>A
3 papers
NM_000165.5
p.K188R
c.563A>G
1 paper
NM_000165.5
p.R189fs
c.565_566fs
1 paper
NM_000165.5
p.R189*
c.565A>T
1 paper
NM_000165.5
p.R189fs
c.565_566fs
1 paper
NM_000165.5
p.R189T
c.566G>C
1 paper
NM_000165.5
p.Y185Y
c.555C>T
3 papers
NM_000165.5
p.P191S
c.571C>T
1 paper
NM_000165.5
p.A183T
c.547G>A
1 paper
NM_000165.5
p.S182C
c.544A>T
3 papers
NM_000165.5
p.P193L
c.578C>T
1 paper
NM_000165.5
p.P193_H194insFs
c.579_580ins4
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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."