Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.A197fs

GJB1

948 papers

RefSeq Summary

This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions...

Pfam Domains

Connexinaa 2–214UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein beta 1

HGNC Previous Symbols

CMTX1; CMTX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000166.6
p.A197fs
c.589_590fs
Surrounding Variants
1 paper
NM_000166.6
p.A197_I200ins1
c.590_598dup9
5 papers
NM_000166.6
p.A197V
c.590C>T
1 paper
NM_000166.6
p.A196D
c.587C>A
1 paper
NM_000166.6
p.A196V
c.587C>T
1 paper
NM_000166.6
p.S198P
c.592T>C
2 papers
NM_000166.6
p.S198A
c.592T>G
1 paper
NM_000166.6
p.S198_I200Fs
c.592_600delinsCAGTGTTCATGACATTCFs
1 paper
NM_000166.6
p.S198C
c.593C>G
1 paper
NM_000166.6
p.S198F
c.593C>T
5 papers
NM_000166.6
p.G199R
c.595G>C
1 paper
NM_000166.6
p.M194I
c.582G>A
1 paper
NM_000166.6
p.M194I
c.582G>C
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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."