Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.C64insFs

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.C64insFs
c.190dupT
Surrounding Variants
29 papers
NM_000166.6
p.V63I
c.187G>A
2 papers
NM_000166.6
p.V63F
c.187G>T
3 papers
NM_000166.6
p.S62R
c.186C>A
5 papers
NM_000166.6
p.S62R
c.186C>G
4 papers
NM_000166.6
p.V63D
c.188T>A
1 paper
NM_000166.6
p.V63A
c.188T>C
2 papers
NM_000166.6
p.S62T
c.185G>C
1 paper
NM_000166.6
p.S62insFs
c.185_186insA
2 papers
NM_000166.6
p.S62R
c.184A>C
3 papers
NM_000166.6
p.C64S
c.190T>A
12 papers
NM_000166.6
p.C64Y
c.191G>A
3 papers
NM_000166.6
p.C64S
c.191G>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."