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.E332K

c.994G>A

Surrounding Variants

3 papers

NM_001349798.2

p.E332*

c.994G>T

1 paper

NM_001349798.2

p.D331E

c.993T>G

1 paper

NM_001349798.2

p.D331E

c.993T>A

1 paper

NM_001349798.2

p.D331G

c.992A>G

1 paper

NM_001349798.2

p.G329V

c.986G>T

1 paper

NM_001349798.2

p.G329Splc

c.986-1G>A

1 paper

NM_001349798.2

p.H335Fs

c.1003delinsGAFs

1 paper

NM_001349798.2

p.P333_H335del3

c.997_1004del9

1 paper

NM_001349798.2

p.R338fs

c.1012_1013fs

1 paper

NM_001349798.2

p.R339G

c.1015A>G

1 paper

NM_001349798.2

p.R339fs

c.1015_1016fs

1 paper

NM_001349798.2

p.R339I

c.1016G>T