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.N101H

c.301A>C

Surrounding Variants

1 paper

NM_012179.4

p.N100S

c.299A>G

1 paper

NM_012179.4

p.E102K

c.304G>A

1 paper

NM_012179.4

p.S105A

c.313T>G

1 paper

NM_012179.4

p.H95R

c.284A>G

2 papers

NM_012179.4

p.H95L

c.284A>T

1 paper

NM_012179.4

p.A107T

c.319G>A

1 paper

NM_012179.4

p.S93T

c.277T>A

2 papers

NM_012179.4

p.S93A

c.277T>G

4 papers

NM_012179.4

p.D92H

c.274G>C

3 papers

NM_012179.4

p.S110F

c.329C>T

1 paper

NM_012179.4

p.T91R

c.272C>G

1 paper

NM_012179.4

p.S90delFs

c.269_270delCC