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

3 papers

NM_012179.4

p.L347P

c.1040T>C

Surrounding Variants

4 papers

NM_012179.4

p.R345P

c.1034G>C

1 paper

NM_012179.4

p.R345*

c.1033C>T

1 paper

NM_012179.4

p.R350C

c.1048C>T

1 paper

NM_012179.4

p.V352I

c.1054G>A

1 paper

NM_012179.4

p.S356_A357delFs

c.1066_1069del4

1 paper

NM_012179.4

p.L355_S356ins1

c.1065_1066insAAA

1 paper

NM_012179.4

p.R360H

c.1079G>A

2 papers

NM_012179.4

p.V334I

c.1000G>A

2 papers

NM_012179.4

p.G331V

c.992G>T

2 papers

NM_012179.4

p.G331W

c.991G>T

2 papers

NM_012179.4

p.A365T

c.1093G>A

1 paper

NM_012179.4

p.A323V

c.968C>T