Varaico: Literature-Extracted Genetic Variants

Gene:SKP2
Variant:p.K28N

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
1 paper
NM_005983.4
p.K28N
c.84G>C
Surrounding Variants
1 paper
NM_005983.4
p.K28N
c.84G>T
6 papers
NM_005983.4
p.L33R
c.98T>G
1 paper
NM_005983.4
p.W22C
c.66G>C
1 paper
NM_005983.4
p.W22C
c.66G>T
1 paper
NM_005983.4
p.W22insFs
c.64_65insT
1 paper
NM_005983.4
p.M36V
c.106A>G
1 paper
NM_005983.4
p.T21A
c.61A>G
1 paper
NM_005983.4
p.E44Q
c.130G>C
1 paper
NM_005983.4
p.E45*
c.133G>T
1 paper
NM_005983.4
p.E45A
c.134A>C
1 paper
NM_005983.4
p.P46S
c.136C>T
2 papers
NM_005983.4
p.P10T
c.28C>A
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