Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.S26L

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
66 papers
NM_000166.6
p.S26L
c.77C>T
Surrounding Variants
1 paper
NM_000166.6
p.S26*
c.77C>A
9 papers
NM_000166.6
p.S26W
c.77C>G
1 paper
NM_000166.6
p.S26S
c.78G>T
1 paper
NM_000166.6
p.S26fs
c.76_77fs
1 paper
NM_000166.6
p.S26delFs
c.77delC
10 papers
NM_000166.6
p.V27I
c.79G>A
1 paper
NM_000166.6
p.R32ins2
c.94_95ins6
2 papers
NM_000166.6
p.V27A
c.80T>C
3 papers
NM_000166.6
p.L25F
c.73C>T
2 papers
NM_000166.6
p.I28fs
c.82_83fs
2 papers
NM_000166.6
p.I28L
c.82A>C
7 papers
NM_000166.6
p.W24*
c.72G>A
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."