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

Selected Variant

1 paper

NM_012179.4

p.R438C

c.1312C>T

Surrounding Variants

1 paper

NM_012179.4

p.I444M

c.1332C>G

1 paper

NM_012179.4

p.G446Fs

c.1338delinsGGFs

1 paper

NM_012179.4

p.E447fs

c.1339_1340fs

1 paper

NM_012179.4

p.P452S

c.1354C>T

1 paper

NM_012179.4

p.I422F

c.1264A>T

1 paper

NM_012179.4

p.P423_F424insFs

c.1268_1272dup5

1 paper

NM_012179.4

p.T421delFs

c.1263delC

1 paper

NM_012179.4

p.P416R

c.1247C>G

1 paper

NM_012179.4

p.P460T

c.1378C>A

1 paper

NM_012179.4

p.M413I

c.1239G>C

1 paper

NM_012179.4

p.V412Fs

c.1235delinsTCFs

2 papers

NM_012179.4

p.R410W

c.1228C>T