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

11 papers

NM_001349798.2

p.R13*

c.37C>T

Surrounding Variants

1 paper

NM_001349798.2

p.R13P

c.38G>C

1 paper

NM_001349798.2

p.R13Q

c.38G>A

1 paper

NM_001349798.2

p.R12_R13insFs

c.36_37insC

2 papers

NM_001349798.2

p.R12I

c.35G>T

3 papers

NM_001349798.2

p.R12T

c.35G>C

6 papers

NM_001349798.2

p.R12K

c.35G>A

9 papers

NM_001349798.2

p.R14*

c.40C>T

18 papers

NM_001349798.2

p.R14Q

c.41G>A

4 papers

NM_001349798.2

p.K11R

c.32A>G

13 papers

NM_001349798.2

p.T15_G16ins1

c.45_46insCCT

1 paper

NM_001349798.2

p.T15ins1

c.44_45insCCT

1 paper

NM_001349798.2

p.S10delFs

c.28delT