Varaico: Literature-Extracted Genetic Variants

Gene:FBXO7
Variant:p.Y52C

FBXO7

294 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

PI31_Prot_Naa 188–322UCSCPI31 proteasome regulator N-terminal
PI31_Prot_Naa 188–322UCSCPI31 proteasome regulator N-terminal
F-boxaa 332–374UCSCF-box domain
F-boxaa 332–374UCSCF-box domain

Gene Aliases

HGNC Name

F-box protein 7

HGNC Alias Symbols

FBX7; Fbx; PARK15

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_012179.4
p.Y52C
c.155A>G
Surrounding Variants
7 papers
NM_012179.4
p.N51S
c.152A>G
1 paper
NM_012179.4
p.T47T
c.141A>T
1 paper
NM_012179.4
p.T57S
c.169A>T
1 paper
NM_012179.4
p.G58R
c.172G>A
1 paper
NM_012179.4
p.G58R
c.172G>C
1 paper
NM_012179.4
p.F46L
c.138T>A
1 paper
NM_012179.4
p.F46L
c.138T>G
1 paper
NM_012179.4
p.F46L
c.136T>C
1 paper
NM_012179.4
p.R45Q
c.134G>A
3 papers
NM_012179.4
p.R45*
c.133C>T
1 paper
NM_012179.4
p.T44T
c.132C>A
1 paper
NM_012179.4
p.T44N
c.131C>A
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