Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L89V

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
3 papers
NM_000166.6
p.L89V
c.265C>G
Surrounding Variants
1 paper
NM_000166.6
p.L89F
c.265C>T
1 paper
NM_000166.6
p.L89H
c.266T>A
7 papers
NM_000166.6
p.L89P
c.266T>C
3 papers
NM_000166.6
p.A88D
c.263C>A
3 papers
NM_000166.6
p.A88V
c.263C>T
7 papers
NM_000166.6
p.L90V
c.268C>G
1 paper
NM_000166.6
p.L90F
c.268C>T
1 paper
NM_000166.6
p.L90delFs
c.269delT
1 paper
NM_000166.6
p.A88T
c.262G>A
2 papers
NM_000166.6
p.A88S
c.262G>T
10 papers
NM_000166.6
p.L90H
c.269T>A
10 papers
NM_000166.6
p.L90P
c.269T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."