Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.V120E

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
5 papers
NM_000166.6
p.V120E
c.359T>A
Surrounding Variants
1 paper
NM_000166.6
p.E119K
c.355G>A
1 paper
NM_000166.6
p.E119*
c.355G>T
1 paper
NM_000166.6
p.H123Y
c.367C>T
1 paper
NM_000166.6
p.L117P
c.350T>C
1 paper
NM_000166.6
p.L117insFs
c.349_350insT
1 paper
NM_000166.6
p.K124E
c.370A>G
1 paper
NM_000166.6
p.K124T
c.371A>C
1 paper
NM_000166.6
p.K124R
c.371A>G
1 paper
NM_000166.6
p.K124_G129delFs
c.372_387del16
2 papers
NM_000166.6
p.K124N
c.372G>C
3 papers
NM_000166.6
p.K124N
c.372G>T
6 papers
NM_000166.6
p.V125I
c.373G>A
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