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.T144R

c.431C>G

Surrounding Variants

1 paper

NM_001349798.2

p.T144M

c.431C>T

1 paper

NM_001349798.2

p.T144T

c.432G>C

2 papers

NM_001349798.2

p.T144T

c.432G>A

1 paper

NM_001349798.2

p.V143insFs

c.429dupC

1 paper

NM_001349798.2

p.V143V

c.429C>A

1 paper

NM_001349798.2

p.N145fs

c.433_434fs

1 paper

NM_001349798.2

p.S146T

c.436T>A

1 paper

NM_001349798.2

p.N141delFs

c.422delT

2 papers

NM_001349798.2

p.S148T

c.443G>C

1 paper

NM_001349798.2

p.T140S

c.419C>G

1 paper

NM_001349798.2

p.S146_S148delFs

c.437_443del7

1 paper

NM_001349798.2

p.T140S

c.418A>T