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.*523*

c.1568G>A

Surrounding Variants

1 paper

NM_012179.4

p.R518R

c.1554G>A

1 paper

NM_012179.4

p.R518Q

c.1553G>A

3 papers

NM_012179.4

p.R518W

c.1552C>T

4 papers

NM_012179.4

p.D516H

c.1546G>C

1 paper

NM_012179.4

p.D516Y

c.1546G>T

1 paper

NM_012179.4

p.T515A

c.1543A>G

1 paper

NM_012179.4

p.P514R

c.1541C>G

1 paper

NM_012179.4

p.P514fs

c.1540_1541fs

1 paper

NM_012179.4

p.P514delFs

c.1541delC

2 papers

NM_012179.4

p.R513Q

c.1538G>A

1 paper

NM_012179.4

p.R513W

c.1537C>T

1 paper

NM_012179.4

p.G512D

c.1535G>A