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

2 papers

NM_001349798.2

p.F632L

c.1896C>G

Surrounding Variants

2 papers

NM_001349798.2

p.F632L

c.1896C>A

2 papers

NM_001349798.2

p.F632L

c.1894T>C

1 paper

NM_001349798.2

p.N633S

c.1898A>G

1 paper

NM_001349798.2

p.K634N

c.1902G>T

1 paper

NM_001349798.2

p.K634N

c.1902G>C

1 paper

NM_001349798.2

p.K634K

c.1902G>A

1 paper

NM_001349798.2

p.L630fs

c.1888_1889fs

2 papers

NM_001349798.2

p.L630*

c.1889T>G

1 paper

NM_001349798.2

p.L630S

c.1889T>C

2 papers

NM_001349798.2

p.L630*

c.1889T>A

1 paper

NM_001349798.2

p.P620_C629del10

c.1858_1886del30

1 paper

NM_001349798.2

p.N635fs

c.1903_1904fs