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

2 papers

NM_001349798.2

p.K266E

c.796A>G

Surrounding Variants

1 paper

NM_001349798.2

p.V265fs

c.793_794fs

1 paper

NM_001349798.2

p.V265E

c.794T>A

3 papers

NM_001349798.2

p.V265I

c.793G>A

1 paper

NM_001349798.2

p.V265delFs

c.795delT

3 papers

NM_001349798.2

p.Q264R

c.791A>G

3 papers

NM_001349798.2

p.M268fs

c.802_803fs

1 paper

NM_001349798.2

p.Q264insFs

c.790_791insT

1 paper

NM_001349798.2

p.Q264_V265insGT

c.790_794ins6

1 paper

NM_001349798.2

p.M268V

c.802A>G

2 papers

NM_001349798.2

p.M268fs

c.802_803fs

1 paper

NM_001349798.2

p.M268delFs

c.802_803delAT

1 paper

NM_001349798.2

p.V265_M268delFs

c.794_803del10