Varaico: Literature-Extracted Genetic Variants

Gene:SKP2
Variant:p.S282*

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.S282*
c.845C>G
Surrounding Variants
2 papers
NM_005983.4
p.S282*
c.845C>A
1 paper
NM_005983.4
p.S282S
c.846A>G
1 paper
NM_005983.4
p.H280Y
c.838C>T
1 paper
NM_005983.4
p.L290F
c.868C>T
1 paper
NM_005983.4
p.H273R
c.818A>G
1 paper
NM_005983.4
p.G292S
c.874G>A
1 paper
NM_005983.4
p.K299fs
c.895_896fs
1 paper
NM_005983.4
p.E260_L261insFs
c.780_781insA
1 paper
NM_005983.4
p.D259N
c.775G>A
1 paper
NM_005983.4
p.D259H
c.775G>C
1 paper
NM_005983.4
p.T250A
c.748A>G
1 paper
NM_005983.4
p.E245K
c.733G>A
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