Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L117P

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.L117P
c.350T>C
Surrounding Variants
1 paper
NM_000166.6
p.L117insFs
c.349_350insT
1 paper
NM_000166.6
p.E119K
c.355G>A
1 paper
NM_000166.6
p.E119*
c.355G>T
1 paper
NM_000166.6
p.L115Q
c.344T>A
1 paper
NM_000166.6
p.L115P
c.344T>C
5 papers
NM_000166.6
p.V120E
c.359T>A
1 paper
NM_000166.6
p.L115insFs
c.343dupC
1 paper
NM_000166.6
p.D113Y
c.337G>T
1 paper
NM_000166.6
p.G112A
c.335G>C
1 paper
NM_000166.6
p.G112R
c.334G>A
1 paper
NM_000166.6
p.H123Y
c.367C>T
1 paper
NM_000166.6
p.K124E
c.370A>G
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."