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

5 papers

NM_001349798.2

p.S678*

c.2033C>G

Surrounding Variants

5 papers

NM_001349798.2

p.S678*

c.2033C>A

1 paper

NM_001349798.2

p.N679fs

c.2035_2036fs

1 paper

NM_001349798.2

p.N679K

c.2037C>A

2 papers

NM_001349798.2

p.T680A

c.2038A>G

1 paper

NM_001349798.2

p.R676K

c.2027G>A

1 paper

NM_001349798.2

p.K681*

c.2041A>T

1 paper

NM_001349798.2

p.I675F

c.2023A>T

1 paper

NM_001349798.2

p.L682P

c.2045T>C

2 papers

NM_001349798.2

p.R674P

c.2021G>C

5 papers

NM_001349798.2

p.R674Q

c.2021G>A

13 papers

NM_001349798.2

p.R674W

c.2020C>T

1 paper

NM_001349798.2

p.W673C

c.2019G>T