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

16 papers

NM_012179.4

p.M115I

c.345G>C

Surrounding Variants

17 papers

NM_012179.4

p.M115I

c.345G>A

16 papers

NM_012179.4

p.M115I

c.345G>T

1 paper

NM_001257990.2

p.Q2*

c.4C>T

1 paper

NM_012179.4

p.E118A

c.353A>C

3 papers

NM_012179.4

p.S110F

c.329C>T

2 papers

NM_012179.4

p.D122N

c.364G>A

6 papers

NM_012179.4

p.S123*

c.368C>A

6 papers

NM_012179.4

p.S123*

c.368C>G

1 paper

NM_012179.4

p.A107T

c.319G>A

1 paper

NM_012179.4

p.S105A

c.313T>G

1 paper

NM_012179.4

p.A128G

c.383C>G

1 paper

NM_012179.4

p.A129T

c.385G>A