Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.V170I

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.V170I
c.508G>A
Surrounding Variants
4 papers
NM_000166.6
p.V170F
c.508G>T
2 papers
NM_000166.6
p.V170D
c.509T>A
1 paper
NM_000166.6
p.V170G
c.509T>G
1 paper
NM_000166.6
p.V170insFs
c.509_510insA
2 papers
NM_000166.6
p.D169N
c.505G>A
1 paper
NM_000166.6
p.Y171insFs
c.512_513ins4
1 paper
NM_000166.6
p.C168_D169insFs
c.504_505ins4
1 paper
NM_000166.6
p.Y171*
c.513C>A
1 paper
NM_000166.6
p.Y171*
c.513C>G
17 papers
NM_000166.6
p.C168Y
c.503G>A
9 papers
NM_000166.6
p.P172A
c.514C>G
8 papers
NM_000166.6
p.P172S
c.514C>T
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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."