Varaico: Literature-Extracted Genetic Variants

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

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

1–12 of 257 variants

46 papers

NM_012179.4

p.R378G

c.1132C>G

46 papers

NM_012179.4

p.R498*

c.1492C>T

41 papers

NM_012179.4

p.T22M

c.65C>T

17 papers

NM_012179.4

p.M115I

c.345G>A

16 papers

NM_012179.4

p.M115I

c.345G>C

16 papers

NM_012179.4

p.M115I

c.345G>T

16 papers

NM_012179.4

p.D382Splc

c.1144+1G>T

15 papers

NM_012179.4

p.L34R

c.101T>G

10 papers

NM_012179.4

p.R481C

c.1441C>T

8 papers

NM_012179.4

p.Y52C

c.155A>G

8 papers

NM_012179.4

p.R321*

c.961C>T

7 papers

NM_012179.4

p.E18V

c.53A>T