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.P231S

c.691C>T

Surrounding Variants

1 paper

NM_001349798.2

p.P231R

c.692C>G

1 paper

NM_001349798.2

p.P230fs

c.688_689fs

1 paper

NM_001349798.2

p.P231P

c.693T>A

1 paper

NM_001349798.2

p.P230S

c.688C>T

1 paper

NM_001349798.2

p.V228_Q229delFs

c.683_687del5

1 paper

NM_001349798.2

p.T232A

c.694A>G

1 paper

NM_001349798.2

p.T232I

c.695C>T

1 paper

NM_001349798.2

p.T232T

c.696A>G

2 papers

NM_001349798.2

p.T232fs

c.694_695fs

1 paper

NM_001349798.2

p.V228insFs

c.682_683ins38

1 paper

NM_001349798.2

p.V228fs

c.682_683fs

1 paper

NM_001349798.2

p.L234H

c.701T>A