Varaico: Literature-Extracted Genetic Variants

Gene:SKP1
Variant:p.P69S

SKP1

108 papers

RefSeq Summary

This gene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring-box protein, and one member of the F-box family of proteins. This protein binds directly to the F-b...

Pfam Domains

Skp1_POZaa 2–67UCSCSkp1 family, tetramerisation domain
Skp1aa 113–160UCSCSkp1 family, dimerisation domain

Gene Aliases

HGNC Name

S-phase kinase associated protein 1

HGNC Previous Symbol

SKP1A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_170679.3
p.P69S
c.205C>T
Surrounding Variants
1 paper
NM_170679.3
p.P71S
c.211C>T
1 paper
NM_170679.3
p.P71L
c.212C>T
1 paper
NM_170679.3
p.P72T
c.214C>A
1 paper
NM_170679.3
p.D68_P71del4
c.202_212del12
1 paper
NM_170679.3
p.P72R
c.215C>G
1 paper
NM_170679.3
p.P72fs
c.214_215fs
1 paper
NM_170679.3
p.E73fs
c.217_218fs
1 paper
NM_170679.3
p.T63T
c.189C>T
1 paper
NM_170679.3
p.D75N
c.223G>A
1 paper
NM_170679.3
p.E76D
c.228G>T
1 paper
NM_170679.3
p.E76D
c.228G>C
1 paper
NM_170679.3
p.K78E
c.232A>G
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