Varaico: Literature-Extracted Genetic Variants

Gene:C19orf47

C19orf47

17 papers

Pfam Domains

SAM_4aa 38–121UCSCSAM domain (Sterile alpha motif)
DUF5577aa 130–418UCSCFamily of unknown function (DUF5577)

Gene Aliases

HGNC Name

chromosome 19 open reading frame 47

HGNC Alias Symbol

FLJ36888

Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
1 paper
NM_001256441.2
p.M6T
c.17T>C
1 paper
NM_001256441.2
p.Q38P
c.113A>C
1 paper
NM_001256441.2
p.D75A
c.224A>C
1 paper
NM_001256441.2
p.R122H
c.365G>A
1 paper
NM_001256441.2
p.S126R
c.378C>A
1 paper
NM_001256441.2
p.M170insFs
c.508_509ins4
1 paper
NM_001256441.2
p.R185H
c.554G>A
1 paper
NM_001256441.2
p.H200H
c.600T>C
1 paper
NM_001256441.2
p.R201K
c.602G>A
1 paper
NM_001256441.2
p.F226L
c.676T>C
1 paper
NM_001256441.2
p.F226L
c.678C>G
1 paper
NM_001256441.2
p.F226L
c.678C>A
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