Varaico: Literature-Extracted Genetic Variants

Gene:COMMD9
Variant:p.R122C

COMMD9

18 papers

Pfam Domains

COMMD9_HNaa 21–95UCSCCOMMD9, helical N-terminal domain
COMM_domainaa 119–188UCSCCOMM domain

Gene Aliases

HGNC Name

COMM domain containing 9

HGNC Alias Symbols

HSPC166; FLJ31106

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014186.4
p.R122C
c.364C>T
Surrounding Variants
1 paper
NM_014186.4
p.R122H
c.365G>A
1 paper
NM_014186.4
p.V124fs
c.370_371fs
1 paper
NM_014186.4
p.D127N
c.379G>A
1 paper
NM_014186.4
p.D127insFs
c.380_381ins46
1 paper
NM_014186.4
p.D127insFs
c.380_381ins29
1 paper
NM_014186.4
p.D127fs
c.379_380fs
1 paper
NM_014186.4
p.I132F
c.394A>T
1 paper
NM_014186.4
p.M142V
c.424A>G
1 paper
NM_014186.4
p.L148L
c.444G>A
1 paper
NM_014186.4
p.N116I
c.347A>T
1 paper
NM_014186.4
p.T108I
c.323C>T
1 paper
NM_014186.4
p.I153L
c.457A>C
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