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.S259fs

c.775_776fs

Surrounding Variants

1 paper

NM_001349798.2

p.C260fs

c.778_779fs

2 papers

NM_001349798.2

p.C260S

c.779G>C

1 paper

NM_001349798.2

p.S259_C260ins4

c.775_779ins12

1 paper

NM_001349798.2

p.C260delFs

c.779delC

1 paper

NM_001349798.2

p.E261K

c.781G>A

1 paper

NM_001349798.2

p.D258N

c.772G>A

1 paper

NM_001349798.2

p.E261G

c.782A>G

1 paper

NM_001349798.2

p.I257T

c.770T>C

1 paper

NM_001349798.2

p.I257N

c.770T>A

1 paper

NM_001349798.2

p.T263S

c.787A>T

1 paper

NM_001349798.2

p.Q264insFs

c.790_791insT

1 paper

NM_001349798.2

p.Q264_V265insGT

c.790_794ins6