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

1 paper

NM_001349798.2

p.F161fs

c.481_482fs

Surrounding Variants

4 papers

NM_001349798.2

p.F161Y

c.482T>A

1 paper

NM_001349798.2

p.Y162C

c.485A>G

1 paper

NM_001349798.2

p.Y162*

c.486T>G

1 paper

NM_001349798.2

p.Y162*

c.486T>A

2 papers

NM_001349798.2

p.P160L

c.479C>T

3 papers

NM_001349798.2

p.T163A

c.487A>G

1 paper

NM_001349798.2

p.Y162delFs

c.486delA

8 papers

NM_001349798.2

p.P160S

c.478C>T

1 paper

NM_001349798.2

p.S159S

c.477C>T

2 papers

NM_001349798.2

p.S159A

c.475T>G

1 paper

NM_001349798.2

p.S158delFs

c.474delG

1 paper

NM_001349798.2

p.S159fs

c.475_476fs