Varaico: Literature-Extracted Genetic Variants

Gene:SKP1

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
1–12 of 69 variants
2 papers
NM_170679.3
p.P86L
c.257C>T
2 papers
NM_170679.3
p.E133Q
c.397G>C
2 papers
NM_170679.3
p.W159G
c.475T>G
1 paper
NM_170679.3
p.Q7L
c.20A>T
1 paper
NM_170679.3
p.D10E
c.30T>G
1 paper
NM_170679.3
p.F14Y
c.41T>A
1 paper
NM_170679.3
p.D17Y
c.49G>T
1 paper
NM_170679.3
p.S24Y
c.71C>A
1 paper
NM_170679.3
p.Q23_S24delFs
c.68_71del4
1 paper
NM_170679.3
p.V25L
c.73G>C
1 paper
NM_170679.3
p.K28N
c.84G>T
1 paper
NM_170679.3
p.K28N
c.84G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."