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.R20delFs

c.58delT

Surrounding Variants

1 paper

NM_001349798.2

p.R20fs

c.58_59fs

1 paper

NM_001349798.2

p.G21C

c.61G>T

1 paper

NM_001349798.2

p.G21S

c.61G>A

1 paper

NM_001349798.2

p.R12_R20del9

c.34_59del27

1 paper

NM_001349798.2

p.L19P

c.56T>C

2 papers

NM_001349798.2

p.G21D

c.62G>A

1 paper

NM_001349798.2

p.G21G

c.63T>A

1 paper

NM_001349798.2

p.G16_S18del3

c.46_53del9

1 paper

NM_001349798.2

p.N22I

c.65A>T

1 paper

NM_001349798.2

p.R13_G17del0

c.37_51del15

1 paper

NM_001349798.2

p.P23S

c.67C>T

1 paper

NM_001349798.2

p.G17V

c.50G>T