Varaico: Literature-Extracted Genetic Variants

FBXW7

1,795 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 ubiquitin pr...

Pfam Domains

F-box-likeaa 281–327UCSCF-box-like

WD40aa 370–407UCSCWD domain, G-beta repeat

Beta-prop_IFT122_1staa 427–694UCSCIFT122 first beta-propeller

Gene Aliases

HGNC Name

F-box and WD repeat domain containing 7

HGNC Alias Symbols

FLJ11071; SEL-10; SEL10; FBW7; FBX30; FBXW6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001349798.2

p.T482A

c.1444A>G

Surrounding Variants

1 paper

NM_001349798.2

p.T482S

c.1444A>T

1 paper

NM_001349798.2

p.T482I

c.1445C>T

1 paper

NM_001349798.2

p.T482S

c.1445C>G

2 papers

NM_001349798.2

p.A481fs

c.1441_1442fs

2 papers

NM_001349798.2

p.A481V

c.1442C>T

1 paper

NM_001349798.2

p.A481G

c.1442C>G

1 paper

NM_001349798.2

p.A481delFs

c.1441delC

1 paper

NM_001349798.2

p.A481insFs

c.1441_1442insT

1 paper

NM_001349798.2

p.A481T

c.1441G>A

4 papers

NM_001349798.2

p.L483F

c.1447C>T

1 paper

NM_001349798.2

p.D480_A481insFs

c.1440_1441insA

2 papers

NM_001349798.2

p.L483H

c.1448T>A