Varaico: Literature-Extracted Genetic Variants

Gene:SKP2
Variant:p.T250A

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.T250A
c.748A>G
Surrounding Variants
1 paper
NM_005983.4
p.E245K
c.733G>A
1 paper
NM_005983.4
p.S244_E245insFs
c.732_733insG
1 paper
NM_005983.4
p.G239W
c.715G>T
1 paper
NM_005983.4
p.L237fs
c.709_710fs
1 paper
NM_005983.4
p.R234Q
c.701G>A
1 paper
NM_005983.4
p.R234*
c.700C>T
1 paper
NM_005983.4
p.N229fs
c.685_686fs
1 paper
NM_005983.4
p.T225I
c.674C>T
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.E260_L261insFs
c.780_781insA
1 paper
NM_005983.4
p.H273R
c.818A>G
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