Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.K231R

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.K231R
c.692A>G
Surrounding Variants
2 papers
NM_000166.6
p.R230L
c.689G>T
12 papers
NM_000166.6
p.R230C
c.688C>T
1 paper
NM_000166.6
p.S233A
c.697T>G
1 paper
NM_000166.6
p.S233fs
c.697_698fs
1 paper
NM_000166.6
p.S233L
c.698C>T
1 paper
NM_000166.6
p.G234C
c.700G>T
26 papers
NM_000166.6
p.F235C
c.704T>G
2 papers
NM_000166.6
p.P227insFs
c.679_680insT
1 paper
NM_000166.6
p.G236S
c.706G>A
1 paper
NM_000166.6
p.N226S
c.677A>G
1 paper
NM_000166.6
p.N226_P227del1
c.677_679delATC
1 paper
NM_000166.6
p.R238C
c.712C>T
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."