Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L131V

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.L131V
c.391C>G
Surrounding Variants
1 paper
NM_000166.6
p.L131L
c.391C>T
11 papers
NM_000166.6
p.L131P
c.392T>C
3 papers
NM_000166.6
p.T130I
c.389C>T
3 papers
NM_000166.6
p.W132R
c.394T>A
3 papers
NM_000166.6
p.W132R
c.394T>C
6 papers
NM_000166.6
p.W132*
c.395G>A
6 papers
NM_000166.6
p.W132*
c.396G>A
2 papers
NM_000166.6
p.G129E
c.386G>A
1 paper
NM_000166.6
p.W132C
c.396G>C
6 papers
NM_000166.6
p.W133delFs
c.397delT
1 paper
NM_000166.6
p.G129R
c.385G>C
10 papers
NM_000166.6
p.W133R
c.397T>A
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