Varaico: Literature-Extracted Genetic Variants

Gene:FBXO5
Variant:p.N273Splc

FBXO5

38 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 the ubiquiti...

Pfam Domains

F-boxaa 256–292UCSCF-box domain
IBR_1aa 373–424UCSCIBR domain

Gene Aliases

HGNC Name

F-box protein 5

HGNC Alias Symbols

FBX5; EMI1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012177.5
p.N273Splc
c.818+3A>C
Surrounding Variants
1 paper
NM_012177.5
p.L259F
c.777A>T
1 paper
NM_012177.5
p.L259F
c.777A>C
1 paper
NM_012177.5
p.E242*
c.724G>T
1 paper
NM_012177.5
p.I234V
c.700A>G
1 paper
NM_012177.5
p.I223L
c.667A>C
1 paper
NM_012177.5
p.L220R
c.659T>G
1 paper
NM_012177.5
p.R217L
c.650G>T
1 paper
NM_012177.5
p.K210R
c.629A>G
1 paper
NM_012177.5
p.K207insFs
c.620dupA
1 paper
NM_012177.5
p.K207fs
c.619_620fs
1 paper
NM_012177.5
p.L205F
c.615A>T
1 paper
NM_012177.5
p.L205F
c.615A>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."