Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.V181M

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
12 papers
NM_000166.6
p.V181M
c.541G>A
Surrounding Variants
2 papers
NM_000166.6
p.F180L
c.540C>A
4 papers
NM_000166.6
p.F180L
c.540C>G
9 papers
NM_000166.6
p.V181A
c.542T>C
1 paper
NM_000166.6
p.V181G
c.542T>G
6 papers
NM_000166.6
p.S182T
c.544T>A
2 papers
NM_000166.6
p.F180L
c.538T>C
1 paper
NM_000166.6
p.S182fs
c.544_545fs
3 papers
NM_000166.6
p.C179*
c.537C>A
2 papers
NM_000166.6
p.S182C
c.545C>G
1 paper
NM_000166.6
p.S182F
c.545C>T
8 papers
NM_000166.6
p.C179Y
c.536G>A
2 papers
NM_000166.6
p.C179S
c.536G>C
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