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.E121*

c.361G>T

Surrounding Variants

1 paper

NM_001349798.2

p.S122S

c.366T>C

3 papers

NM_001349798.2

p.D119Y

c.355G>T

1 paper

NM_001349798.2

p.D123Y

c.367G>T

1 paper

NM_001349798.2

p.D123H

c.367G>C

1 paper

NM_001349798.2

p.D119H

c.355G>C

1 paper

NM_001349798.2

p.D123N

c.367G>A

2 papers

NM_001349798.2

p.M118fs

c.352_353fs

3 papers

NM_001349798.2

p.D124Y

c.370G>T

1 paper

NM_001349798.2

p.D124H

c.370G>C

1 paper

NM_001349798.2

p.D124N

c.370G>A

21 papers

NM_001349798.2

p.E117del1

c.349_350delCTC

1 paper

NM_001349798.2

p.E117E

c.351G>A