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.L495F

c.1485G>C

Surrounding Variants

1 paper

NM_012179.4

p.L495F

c.1485G>T

1 paper

NM_012179.4

p.G497delFs

c.1491delG

46 papers

NM_012179.4

p.R498*

c.1492C>T

1 paper

NM_012179.4

p.R498fs

c.1492_1493fs

1 paper

NM_012179.4

p.R498Q

c.1493G>A

1 paper

NM_012179.4

p.R498P

c.1493G>C

1 paper

NM_012179.4

p.G499_P501del3

c.1495_1502del9

1 paper

NM_012179.4

p.N492K

c.1476C>A

1 paper

NM_012179.4

p.N492K

c.1476C>G

5 papers

NM_012179.4

p.G499S

c.1495G>A

1 paper

NM_012179.4

p.G500V

c.1499G>T

2 papers

NM_012179.4

p.N502S

c.1505A>G