Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.Q99R

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.Q99R
c.296A>G
Surrounding Variants
1 paper
NM_000166.6
p.Q99_H100insCAT
c.295_299ins9
7 papers
NM_000166.6
p.H100Y
c.298C>T
6 papers
NM_000166.6
p.Q99_H100ins1
c.297_298insCAA
1 paper
NM_000166.6
p.H100P
c.299A>C
2 papers
NM_000166.6
p.H100L
c.299A>T
1 paper
NM_000166.6
p.Q98L
c.293A>T
6 papers
NM_000166.6
p.H100Q
c.300C>A
6 papers
NM_000166.6
p.H100Q
c.300C>G
1 paper
NM_000166.6
p.Q98*
c.292C>T
1 paper
NM_000166.6
p.I101delFs
c.302_303delTA
2 papers
NM_000166.6
p.I101fs
c.301_302fs
2 papers
NM_000166.6
p.H97R
c.290A>G
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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."