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.R46R

c.136A>C

Surrounding Variants

1 paper

NM_001349798.2

p.R46_Q47insCCT

c.136_140ins9

1 paper

NM_001349798.2

p.L45L

c.135C>G

1 paper

NM_001349798.2

p.L45R

c.134T>G

2 papers

NM_001349798.2

p.Q47*

c.139C>T

13 papers

NM_001349798.2

p.L45_R46insCCT

c.133_137ins9

2 papers

NM_001349798.2

p.Q44R

c.131A>G

1 paper

NM_001349798.2

p.R46_Q47insFs

c.137_140dup4

2 papers

NM_001349798.2

p.Q48*

c.142C>T

1 paper

NM_001349798.2

p.Q44_L45insCCT

c.130_134ins9

1 paper

NM_001349798.2

p.Q43H

c.129G>T

1 paper

NM_001349798.2

p.Q43H

c.129G>C

1 paper

NM_001349798.2

p.Q48L

c.143A>T