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.A518E

c.1553C>A

Surrounding Variants

1 paper

NM_001349798.2

p.A518T

c.1552G>A

1 paper

NM_001349798.2

p.A518fs

c.1552_1553fs

1 paper

NM_001349798.2

p.G517E

c.1550G>A

10 papers

NM_001349798.2

p.Y519C

c.1556A>G

2 papers

NM_001349798.2

p.Y519S

c.1556A>C

1 paper

NM_001349798.2

p.Y519*

c.1557T>G

1 paper

NM_001349798.2

p.Y519*

c.1557T>A

3 papers

NM_001349798.2

p.G517R

c.1549G>C

3 papers

NM_001349798.2

p.G517R

c.1549G>A

1 paper

NM_001349798.2

p.S516R

c.1548T>G

1 paper

NM_001349798.2

p.S516R

c.1548T>A

8 papers

NM_001349798.2

p.D520Y

c.1558G>T