Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.V189I

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
4 papers
NM_000166.6
p.V189I
c.565G>A
Surrounding Variants
3 papers
NM_000166.6
p.T188I
c.563C>T
6 papers
NM_000166.6
p.T188A
c.562A>G
1 paper
NM_000166.6
p.T191_F193ins1
c.571_579dup9
1 paper
NM_000166.6
p.T191_M194del0
c.572_580del9
7 papers
NM_000166.6
p.T191fs
c.571_572fs
2 papers
NM_000166.6
p.T191A
c.571A>G
1 paper
NM_000166.6
p.K187E
c.559A>G
1 paper
NM_000166.6
p.T191_M194del0
c.573_581del9
1 paper
NM_000166.6
p.E186G
c.557A>G
1 paper
NM_000166.6
p.E186V
c.557A>T
36 papers
NM_000166.6
p.E186K
c.556G>A
6 papers
NM_000166.6
p.E186*
c.556G>T
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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."