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.T140S

c.419C>G

Surrounding Variants

1 paper

NM_001349798.2

p.T140S

c.418A>T

1 paper

NM_001349798.2

p.T140P

c.418A>C

1 paper

NM_001349798.2

p.H139fs

c.415_416fs

1 paper

NM_001349798.2

p.H139P

c.416A>C

1 paper

NM_001349798.2

p.N141delFs

c.422delT

1 paper

NM_001349798.2

p.H137L

c.410A>T

1 paper

NM_001349798.2

p.H137D

c.409C>G

1 paper

NM_001349798.2

p.V143V

c.429C>A

1 paper

NM_001349798.2

p.V143insFs

c.429dupC

1 paper

NM_001349798.2

p.T144M

c.431C>T

1 paper

NM_001349798.2

p.T144R

c.431C>G

1 paper

NM_001349798.2

p.E136*

c.406G>T