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.G477R

c.1429G>C

Surrounding Variants

2 papers

NM_001349798.2

p.G477C

c.1429G>T

16 papers

NM_001349798.2

p.G477S

c.1429G>A

1 paper

NM_001349798.2

p.G477D

c.1430G>A

1 paper

NM_001349798.2

p.S476R

c.1428C>G

1 paper

NM_001349798.2

p.S476R

c.1428C>A

1 paper

NM_001349798.2

p.G477fs

c.1429_1430fs

1 paper

NM_001349798.2

p.G477delFs

c.1429delC

5 papers

NM_001349798.2

p.S476N

c.1427G>A

1 paper

NM_001349798.2

p.S478T

c.1432T>A

1 paper

NM_001349798.2

p.S476R

c.1426A>C

8 papers

NM_001349798.2

p.S478F

c.1433C>T

1 paper

NM_001349798.2

p.S478Y

c.1433C>A