Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.G21D

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
5 papers
NM_000166.6
p.G21D
c.62G>A
Surrounding Variants
1 paper
NM_000166.6
p.G21S
c.61G>A
6 papers
NM_000166.6
p.G21R
c.61G>C
1 paper
NM_000166.6
p.G21delins
c.61_62delinsAA
1 paper
NM_000166.6
p.R22R
c.64C>A
19 papers
NM_000166.6
p.R22G
c.64C>G
22 papers
NM_000166.6
p.R22*
c.64C>T
1 paper
NM_000166.6
p.I20M
c.60T>G
43 papers
NM_000166.6
p.R22Q
c.65G>A
13 papers
NM_000166.6
p.R22P
c.65G>C
1 paper
NM_000166.6
p.I20N
c.59T>A
5 papers
NM_000166.6
p.I20T
c.59T>C
3 papers
NM_000166.6
p.I20S
c.59T>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."