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.T208I

c.623C>T

Surrounding Variants

1 paper

NM_001349798.2

p.T208S

c.623C>G

1 paper

NM_001349798.2

p.T208A

c.622A>G

1 paper

NM_001349798.2

p.F209insFs

c.625_626insAA

1 paper

NM_001349798.2

p.F209Y

c.626T>A

1 paper

NM_001349798.2

p.T207K

c.620C>A

1 paper

NM_001349798.2

p.F209fs

c.625_626fs

1 paper

NM_001349798.2

p.T207P

c.619A>C

1 paper

NM_001349798.2

p.P206fs

c.616_617fs

2 papers

NM_001349798.2

p.G210V

c.629G>T

1 paper

NM_001349798.2

p.F209_G210delFs

c.627_628delCA

1 paper

NM_001349798.2

p.T207_G210delFs

c.620_629del10

1 paper

NM_001349798.2

p.P206S

c.616C>T