Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.V152I

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.V152I
c.454G>A
Surrounding Variants
3 papers
NM_000166.6
p.V152fs
c.454_455fs
1 paper
NM_000166.6
p.V152D
c.455T>A
1 paper
NM_000166.6
p.Y151*
c.453T>G
1 paper
NM_000166.6
p.V152delFs
c.454delG
1 paper
NM_000166.6
p.Y151S
c.452A>C
7 papers
NM_000166.6
p.Y151C
c.452A>G
2 papers
NM_000166.6
p.Y151H
c.451T>C
2 papers
NM_000166.6
p.F153L
c.457T>C
1 paper
NM_000166.6
p.F153V
c.457T>G
6 papers
NM_000166.6
p.F153S
c.458T>C
3 papers
NM_000166.6
p.F153C
c.458T>G
2 papers
NM_000166.6
p.F153L
c.459T>A
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