Varaico: Literature-Extracted Genetic Variants

Gene:SKP2
Variant:p.G60C

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.G60C
c.178G>T
Surrounding Variants
1 paper
NM_005983.4
p.G60D
c.179G>A
1 paper
NM_005983.4
p.L59R
c.176T>G
1 paper
NM_005983.4
p.H61Q
c.183C>A
1 paper
NM_005983.4
p.S57S
c.171A>T
1 paper
NM_005983.4
p.P66T
c.196C>A
1 paper
NM_005983.4
p.Q53*
c.157C>T
1 paper
NM_005983.4
p.R67fs
c.199_200fs
1 paper
NM_005983.4
p.K68Q
c.202A>C
1 paper
NM_005983.4
p.E49V
c.146A>T
1 paper
NM_005983.4
p.S48insFs
c.142_143ins44
1 paper
NM_005983.4
p.P46S
c.136C>T
1 paper
NM_005983.4
p.G74W
c.220G>T
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