Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L83P

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.L83P
c.248T>C
Surrounding Variants
2 papers
NM_000166.6
p.L83R
c.248T>G
4 papers
NM_000166.6
p.I82M
c.246C>G
2 papers
NM_000166.6
p.L83_T86delFs
c.247_256del10
5 papers
NM_000166.6
p.V84I
c.250G>A
10 papers
NM_000166.6
p.V84L
c.250G>C
2 papers
NM_000166.6
p.V84D
c.251T>A
1 paper
NM_000166.6
p.I82N
c.245T>A
1 paper
NM_000166.6
p.I82T
c.245T>C
1 paper
NM_000166.6
p.L83delFs
c.247delC
21 papers
NM_000166.6
p.S85C
c.254C>G
1 paper
NM_000166.6
p.L81H
c.242T>A
1 paper
NM_000166.6
p.L81P
c.242T>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."