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.L152L

c.456G>A

Surrounding Variants

1 paper

NM_001349798.2

p.L152del1

c.454_456delCAG

1 paper

NM_001349798.2

p.P153P

c.459C>T

2 papers

NM_001349798.2

p.V154I

c.460G>A

1 paper

NM_001349798.2

p.D151N

c.451G>A

1 paper

NM_001349798.2

p.I149_V150del2

c.445_449del6

1 paper

NM_001349798.2

p.V154insFs

c.461_462insTG

2 papers

NM_001349798.2

p.V150A

c.449T>C

1 paper

NM_001349798.2

p.H155_Q156ins5

c.463_467ins15

1 paper

NM_001349798.2

p.I149Fs

c.445_446delinsAFs

1 paper

NM_001349798.2

p.Q156K

c.466C>A

1 paper

NM_001349798.2

p.I149V

c.445A>G

1 paper

NM_001349798.2

p.S146_S148delFs

c.437_443del7