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.T616I

c.1847C>T

Surrounding Variants

1 paper

NM_001349798.2

p.L617W

c.1850T>G

1 paper

NM_001349798.2

p.L614V

c.1840T>G

1 paper

NM_001349798.2

p.Q618delFs

c.1854delT

1 paper

NM_001349798.2

p.G619Splc

c.1855+1G>C

2 papers

NM_001349798.2

p.Q612*

c.1834C>T

1 paper

NM_001349798.2

p.G611V

c.1832G>T

3 papers

NM_001349798.2

p.G611E

c.1832G>A

1 paper

NM_001349798.2

p.G619Splc

c.1855+7C>G

1 paper

NM_001349798.2

p.G611*

c.1831G>T

1 paper

NM_001349798.2

p.K609N

c.1827A>T

1 paper

NM_001349798.2

p.K609N

c.1827A>C

1 paper

NM_018315.5

p.I528F

c.1582A>T