Varaico: Literature-Extracted Genetic Variants

Gene:SKP2
Variant:p.R217R

SKP2

167 papers

RefSeq Summary

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin pr...

Pfam Domains

F-box-likeaa 97–143UCSCF-box-like
F-box-likeaa 97–143UCSCF-box-like

Gene Aliases

HGNC Name

S-phase kinase associated protein 2

HGNC Alias Symbols

FBL1; p45

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005983.4
p.R217R
c.651G>A
Surrounding Variants
1 paper
NM_005983.4
p.R217Q
c.650G>A
1 paper
NM_005983.4
p.L218H
c.653T>A
1 paper
NM_005983.4
p.L216L
c.646C>T
1 paper
NM_005983.4
p.S219L
c.656C>T
1 paper
NM_005983.4
p.P221S
c.661C>T
1 paper
NM_005983.4
p.P221insFs
c.662_663insG
1 paper
NM_005983.4
p.Q209L
c.626A>T
2 papers
NM_005983.4
p.S206Y
c.617C>A
1 paper
NM_005983.4
p.S203F
c.608C>T
2 papers
NM_005983.4
p.S203A
c.607T>G
1 paper
NM_005983.4
p.I201T
c.602T>C
1 paper
NM_005983.4
p.G200D
c.599G>A
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