Varaico: Literature-Extracted Genetic Variants

Gene:SKP1
Variant:p.L47V

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.L47V
c.139C>G
Surrounding Variants
1 paper
NM_170679.3
p.P46S
c.136C>T
1 paper
NM_170679.3
p.N49I
c.146A>T
1 paper
NM_170679.3
p.D41G
c.122A>G
1 paper
NM_170679.3
p.A53V
c.158C>T
1 paper
NM_170679.3
p.E39*
c.115G>T
1 paper
NM_170679.3
p.L55S
c.164T>C
1 paper
NM_170679.3
p.D38E
c.114T>A
1 paper
NM_170679.3
p.M36V
c.106A>G
1 paper
NM_170679.3
p.G35A
c.104G>C
1 paper
NM_170679.3
p.I59F
c.175A>T
1 paper
NM_170679.3
p.T63T
c.189C>T
1 paper
NM_170679.3
p.P69S
c.205C>T
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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."