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

4 papers

NM_001349798.2

p.Q270*

c.808C>T

Surrounding Variants

1 paper

NM_001349798.2

p.M269I

c.807G>T

1 paper

NM_001349798.2

p.M269I

c.807G>C

1 paper

NM_001349798.2

p.M269I

c.807G>A

1 paper

NM_001349798.2

p.V271M

c.811G>A

1 paper

NM_001349798.2

p.M269fs

c.805_806fs

1 paper

NM_001349798.2

p.H267_M268delFs

c.801_804del4

2 papers

NM_001349798.2

p.M268fs

c.802_803fs

1 paper

NM_001349798.2

p.M268delFs

c.802_803delAT

1 paper

NM_001349798.2

p.V265_M268delFs

c.794_803del10

3 papers

NM_001349798.2

p.M268fs

c.802_803fs

1 paper

NM_001349798.2

p.M268V

c.802A>G

2 papers

NM_001349798.2

p.I272fs

c.814_815fs