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.R481H

c.1442G>A

Surrounding Variants

10 papers

NM_012179.4

p.R481C

c.1441C>T

1 paper

NM_012179.4

p.R479G

c.1435A>G

1 paper

NM_012179.4

p.P484A

c.1450C>G

1 paper

NM_012179.4

p.V485I

c.1453G>A

1 paper

NM_012179.4

p.Q474*

c.1420C>T

1 paper

NM_012179.4

p.T471M

c.1412C>T

1 paper

NM_012179.4

p.N492K

c.1476C>A

1 paper

NM_012179.4

p.N492K

c.1476C>G

7 papers

NM_012179.4

p.E470*

c.1408G>T

1 paper

NM_012179.4

p.L495F

c.1485G>C

1 paper

NM_012179.4

p.L495F

c.1485G>T

1 paper

NM_012179.4

p.G497delFs

c.1491delG