Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.P87R

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
5 papers
NM_000166.6
p.P87R
c.260C>G
Surrounding Variants
5 papers
NM_000166.6
p.P87L
c.260C>T
20 papers
NM_000166.6
p.P87A
c.259C>G
5 papers
NM_000166.6
p.P87S
c.259C>T
1 paper
NM_000166.6
p.A88T
c.262G>A
2 papers
NM_000166.6
p.A88S
c.262G>T
4 papers
NM_000166.6
p.T86N
c.257C>A
3 papers
NM_000166.6
p.A88D
c.263C>A
4 papers
NM_000166.6
p.T86S
c.257C>G
3 papers
NM_000166.6
p.T86I
c.257C>T
3 papers
NM_000166.6
p.A88V
c.263C>T
1 paper
NM_000166.6
p.T86insFs
c.256_257ins35
1 paper
NM_000166.6
p.T86insFs
c.257_258ins35
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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."