Varaico: Literature-Extracted Genetic Variants

Gene:FBXO5
Variant:p.S35Splc

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.S35Splc
c.103+2450A>G
Surrounding Variants
1 paper
NM_012177.5
p.P21P
c.63C>T
1 paper
NM_012177.5
p.K48R
c.143A>G
1 paper
NM_012177.5
p.D67D
c.201C>T
1 paper
NM_012177.5
p.T75A
c.223A>G
1 paper
NM_012177.5
p.E80K
c.238G>A
1 paper
NM_012177.5
p.C86C
c.258C>T
3 papers
NM_012177.5
p.Q107E
c.319C>G
1 paper
NM_012177.5
p.D144A
c.431A>C
1 paper
NM_012177.5
p.E161insFs
c.482dupA
1 paper
NM_012177.5
p.L164F
c.490C>T
1 paper
NM_012177.5
p.C176S
c.526T>A
1 paper
NM_012177.5
p.L205F
c.615A>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."