Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.M194V

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.M194V
c.580A>G
Surrounding Variants
2 papers
NM_000166.6
p.F193L
c.579C>A
2 papers
NM_000166.6
p.F193L
c.579C>G
1 paper
NM_000166.6
p.M194T
c.581T>C
1 paper
NM_000166.6
p.M194I
c.582G>A
1 paper
NM_000166.6
p.M194I
c.582G>C
1 paper
NM_000166.6
p.M194I
c.582G>T
1 paper
NM_000166.6
p.F193S
c.578T>C
2 papers
NM_000166.6
p.F193C
c.578T>G
2 papers
NM_000166.6
p.F193L
c.577T>C
1 paper
NM_000166.6
p.V192F
c.574G>T
1 paper
NM_000166.6
p.A196D
c.587C>A
1 paper
NM_000166.6
p.A196V
c.587C>T
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