Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.P193_H194insFs

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.P193_H194insFs
c.579_580ins4
Surrounding Variants
3 papers
NM_000165.5
p.P193L
c.578C>T
25 papers
NM_000165.5
p.H194P
c.581A>C
2 papers
NM_000165.5
p.V196M
c.586G>A
3 papers
NM_000165.5
p.P191S
c.571C>T
1 paper
NM_000165.5
p.R189T
c.566G>C
1 paper
NM_000165.5
p.C198_L200Fs
c.592_600delinsCAGTGTTCATGACATTCFs
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.C198Y
c.593G>A
3 papers
NM_000165.5
p.K188R
c.563A>G
3 papers
NM_000165.5
p.F199L
c.595T>C
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