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.Q48L

c.143A>T

Surrounding Variants

2 papers

NM_001349798.2

p.Q48*

c.142C>T

1 paper

NM_001349798.2

p.Q48Q

c.144A>G

1 paper

NM_001349798.2

p.E49*

c.145G>T

1 paper

NM_001349798.2

p.E49K

c.145G>A

1 paper

NM_001349798.2

p.R46_Q47insFs

c.137_140dup4

7 papers

NM_001349798.2

p.E49V

c.146A>T

2 papers

NM_001349798.2

p.Q47*

c.139C>T

1 paper

NM_001349798.2

p.E50*

c.148G>T

2 papers

NM_001349798.2

p.E50K

c.148G>A

1 paper

NM_001349798.2

p.E50D

c.150G>T

1 paper

NM_001349798.2

p.E50D

c.150G>C

1 paper

NM_001349798.2

p.R46R

c.136A>C