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.R403fs

c.1207_1208fs

Surrounding Variants

1 paper

NM_012179.4

p.R403K

c.1208G>A

2 papers

NM_012179.4

p.Q402_R403insFs

c.1206_1207dupAA

1 paper

NM_012179.4

p.Q402*

c.1204C>T

4 papers

NM_012179.4

p.E405*

c.1213G>T

1 paper

NM_012179.4

p.R399fs

c.1195_1196fs

1 paper

NM_012179.4

p.P407L

c.1220C>T

1 paper

NM_012179.4

p.K398E

c.1192A>G

2 papers

NM_012179.4

p.G409V

c.1226G>T

2 papers

NM_012179.4

p.R410W

c.1228C>T

1 paper

NM_012179.4

p.V412Fs

c.1235delinsTCFs

1 paper

NM_012179.4

p.M413I

c.1239G>C

1 paper

NM_012179.4

p.P416R

c.1247C>G