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.G619Splc

c.1856-2A>T

Surrounding Variants

2 papers

NM_001349798.2

p.G619Splc

c.1856-2A>G

1 paper

NM_001349798.2

p.G619Splc

c.1856-2A>C

1 paper

NM_001349798.2

p.P620S

c.1858C>T

3 papers

NM_001349798.2

p.P620R

c.1859C>G

1 paper

NM_001349798.2

p.N621fs

c.1861_1862fs

1 paper

NM_001349798.2

p.N621S

c.1862A>G

1 paper

NM_001349798.2

p.N621K

c.1863C>G

1 paper

NM_001349798.2

p.N621K

c.1863C>A

1 paper

NM_001349798.2

p.H623N

c.1867C>A

3 papers

NM_001349798.2

p.Q624*

c.1870C>T

1 paper

NM_001349798.2

p.Q624E

c.1870C>G

1 paper

NM_001349798.2

p.S625R

c.1873A>C