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.D254fs

c.760_761fs

Surrounding Variants

1 paper

NM_001349798.2

p.L253S

c.758T>C

1 paper

NM_001349798.2

p.L250_L251delFs

c.749_752del4

1 paper

NM_001349798.2

p.E255*

c.763G>T

1 paper

NM_001349798.2

p.E255K

c.763G>A

1 paper

NM_001349798.2

p.A252fs

c.754_755fs

1 paper

NM_001349798.2

p.A252insFs

c.754_755insG

1 paper

NM_001349798.2

p.A252fs

c.754_755fs

1 paper

NM_001349798.2

p.L251fs

c.751_752fs

1 paper

NM_001349798.2

p.L251L

c.753T>A

1 paper

NM_001349798.2

p.L251F

c.751C>T

1 paper

NM_001349798.2

p.L250insFs

c.750dupG

1 paper

NM_001349798.2

p.L250delFs

c.750delC