Varaico: Literature-Extracted Genetic Variants

Gene:RFK
Variant:p.S147Y

RFK

19 papers

RefSeq Summary

Riboflavin kinase (RFK; EC 2.7.1.26) is an essential enzyme that catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin mononucleotide (FMN), an obligatory step in vitamin B2 utilizat...

Pfam Domains

Flavokinaseaa 2–130UCSCRiboflavin kinase

Gene Aliases

HGNC Name

riboflavin kinase

HGNC Alias Symbols

FLJ11149; RIFK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018339.6
p.S147Y
c.440C>A
Surrounding Variants
1 paper
NM_018339.6
p.E140delFs
c.419delT
1 paper
NM_018339.6
p.A118V
c.353C>T
1 paper
NM_018339.6
p.G101G
c.303C>A
1 paper
NM_018339.6
p.I99T
c.296T>C
1 paper
NM_018339.6
p.V97V
c.291G>C
1 paper
NM_018339.6
p.E93insFs
c.278_279insG
1 paper
NM_018339.6
p.H81N
c.241C>A
1 paper
NM_018339.6
p.P69L
c.206C>T
1 paper
NM_018339.6
p.K60Q
c.178A>C
1 paper
NM_018339.6
p.V53G
c.158T>G
1 paper
NM_018339.6
p.A51T
c.151G>A
1 paper
NM_018339.6
p.Y48N
c.142T>A
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