Varaico: Literature-Extracted Genetic Variants

Gene:C14orf93
Variant:p.S147R

C14orf93

42 papers

Pfam Domains

DUF4616aa 2–538UCSCDomain of unknown function (DUF4616)

Gene Aliases

HGNC Name

chromosome 14 open reading frame 93

HGNC Alias Symbols

FLJ12154; RTFC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021944.4
p.S147R
c.441C>A
Surrounding Variants
1 paper
NM_021944.4
p.S147R
c.441C>G
1 paper
NM_021944.4
p.S147R
c.439A>C
1 paper
NM_021944.4
p.V152M
c.454G>A
1 paper
NM_021944.4
p.R160W
c.478C>T
1 paper
NM_021944.4
p.G125W
c.373G>T
1 paper
NM_021944.4
p.Q178L
c.533A>T
2 papers
NM_021944.4
p.R115Q
c.344G>A
1 paper
NM_021944.4
p.R115W
c.343C>T
1 paper
NM_021944.4
p.R182W
c.544C>T
1 paper
NM_021944.4
p.G112R
c.334G>C
1 paper
NM_021944.4
p.G112R
c.334G>A
1 paper
NM_021944.4
p.G112fs
c.334_335fs
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