Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.C201R

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
3 papers
NM_000166.6
p.C201R
c.601T>C
Surrounding Variants
1 paper
NM_000166.6
p.C201S
c.601T>A
1 paper
NM_000166.6
p.C201G
c.601T>G
4 papers
NM_000166.6
p.C201Y
c.602G>A
1 paper
NM_000166.6
p.C201S
c.602G>C
1 paper
NM_000166.6
p.C201F
c.602G>T
1 paper
NM_000166.6
p.C201W
c.603C>G
2 papers
NM_000166.6
p.I202N
c.605T>A
5 papers
NM_000166.6
p.G199R
c.595G>C
5 papers
NM_000166.6
p.I203N
c.608T>A
5 papers
NM_000166.6
p.I203T
c.608T>C
1 paper
NM_000166.6
p.S198C
c.593C>G
1 paper
NM_000166.6
p.I203M
c.609C>G
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