Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.P174L

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
2 papers
NM_000166.6
p.P174L
c.521C>T
Surrounding Variants
2 papers
NM_000166.6
p.P174S
c.520C>T
2 papers
NM_000166.6
p.N175H
c.523A>C
24 papers
NM_000166.6
p.N175D
c.523A>G
5 papers
NM_000166.6
p.N175Y
c.523A>T
1 paper
NM_000166.6
p.N175insFs
c.524_525insTT
2 papers
NM_000166.6
p.N175S
c.524A>G
1 paper
NM_000166.6
p.C173Y
c.518G>A
1 paper
NM_000166.6
p.C173F
c.518G>T
1 paper
NM_000166.6
p.T176_V177del2
c.526_530del6
5 papers
NM_000166.6
p.C173R
c.517T>C
1 paper
NM_000166.6
p.T176P
c.526A>C
9 papers
NM_000166.6
p.P172R
c.515C>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."