Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.M1L

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
2 papers
NM_000166.6
p.M1L
c.1A>T
Surrounding Variants
2 papers
NM_000166.6
p.M1L
c.1A>C
2 papers
NM_000166.6
p.M1V
c.1A>G
2 papers
NM_000166.6
p.M1T
c.2T>C
3 papers
NM_000166.6
p.M1R
c.2T>G
14 papers
NM_000166.6
p.M1I
c.3G>A
14 papers
NM_000166.6
p.M1I
c.3G>C
14 papers
NM_000166.6
p.M1I
c.3G>T
1 paper
NM_000166.6
p.N2delFs
c.4delA
5 papers
NM_000166.6
p.N2D
c.4A>G
2 papers
NM_000166.6
p.N2S
c.5A>G
5 papers
NM_000166.6
p.N2K
c.6C>A
5 papers
NM_000166.6
p.N2K
c.6C>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."