Varaico: Literature-Extracted Genetic Variants

Gene:C9orf43
Variant:p.R112K

C9orf43

41 papers

Pfam Domains

DUF4647aa 1–454UCSCDomain of unknown function (DUF4647)

Gene Aliases

HGNC Name

chromosome 9 open reading frame 43

HGNC Alias Symbol

MGC17358

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001278629.2
p.R112K
c.335G>A
Surrounding Variants
3 papers
NM_001278629.2
p.I107V
c.319A>G
2 papers
NM_001278629.2
p.K99delFs
c.296_297delAG
1 paper
NM_001278629.2
p.R133G
c.397A>G
1 paper
NM_001278629.2
p.I140L
c.418A>C
1 paper
NM_001278629.2
p.L169I
c.505C>A
1 paper
NM_001278629.2
p.A175V
c.524C>T
1 paper
NM_001278629.2
p.T181A
c.541A>G
1 paper
NM_001278629.2
p.L203P
c.608T>C
1 paper
NM_001278629.2
p.Q214*
c.640C>T
1 paper
NM_001278629.2
p.R250Q
c.749G>A
1 paper
NM_001278629.2
p.I263V
c.787A>G
1 paper
NM_001278629.2
p.R265C
c.793C>T
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