Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.R220P

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.R220P
c.659G>C
Surrounding Variants
1 paper
NM_000166.6
p.R220insFs
c.659_660insC
2 papers
NM_000166.6
p.R220G
c.658C>G
22 papers
NM_000166.6
p.R220*
c.658C>T
3 papers
NM_000166.6
p.R220fs
c.658_659fs
2 papers
NM_000166.6
p.A221T
c.661G>A
5 papers
NM_000166.6
p.R219H
c.656G>A
2 papers
NM_000166.6
p.R219insFs
c.657dupC
3 papers
NM_000166.6
p.R219C
c.655C>T
1 paper
NM_000166.6
p.R223G
c.667C>G
4 papers
NM_000166.6
p.C217*
c.651T>A
1 paper
NM_000166.6
p.C217_A218ins3
c.651_652ins9
1 paper
NM_000166.6
p.R219_R224insFs
c.655_670dup16
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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."