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.A215T

c.643G>A

Surrounding Variants

1 paper

NM_001349798.2

p.A214E

c.641C>A

1 paper

NM_001349798.2

p.N216S

c.647A>G

1 paper

NM_001349798.2

p.R213K

c.638G>A

8 papers

NM_001349798.2

p.R213*

c.637A>T

1 paper

NM_001349798.2

p.R213_A214insT

c.637_641ins3

1 paper

NM_001349798.2

p.R213fs

c.637_638fs

1 paper

NM_001349798.2

p.G217A

c.650G>C

1 paper

NM_001349798.2

p.G217insFs

c.650dupG

1 paper

NM_001349798.2

p.Q218*

c.652C>T

1 paper

NM_001349798.2

p.Q218fs

c.652_653fs

1 paper

NM_001349798.2

p.Q218insFs

c.652dupC

1 paper

NM_001349798.2

p.G219W

c.655G>T