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.D88_E89insFs

c.264_265insGT

Surrounding Variants

1 paper

NM_001349798.2

p.E89*

c.265G>T

1 paper

NM_001349798.2

p.E89G

c.266A>G

1 paper

NM_001349798.2

p.E89D

c.267G>C

1 paper

NM_001349798.2

p.V87insFs

c.259_260ins4

1 paper

NM_001349798.2

p.D90N

c.268G>A

1 paper

NM_001349798.2

p.D90V

c.269A>T

1 paper

NM_001349798.2

p.D90E

c.270C>G

1 paper

NM_001349798.2

p.D90E

c.270C>A

3 papers

NM_001349798.2

p.S86L

c.257C>T

1 paper

NM_001349798.2

p.S86insFs

c.256dupT

1 paper

NM_001349798.2

p.S86*

c.257C>A

1 paper

NM_001349798.2

p.I85I

c.255T>C