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.H500R

c.1499A>G

Surrounding Variants

7 papers

NM_018315.5

p.H420Y

c.1258C>T

NM_001349798.2

p.H500Y

c.1498C>T

1 paper

NM_001349798.2

p.H500D

c.1498C>G

1 paper

NM_001349798.2

p.G499delFs

c.1496delC

1 paper

NM_001349798.2

p.V501I

c.1501G>A

1 paper

NM_001349798.2

p.V501A

c.1502T>C

1 paper

NM_001349798.2

p.G499V

c.1496G>T

2 papers

NM_001349798.2

p.G499D

c.1496G>A

2 papers

NM_001349798.2

p.G499fs

c.1495_1496fs

3 papers

NM_001349798.2

p.G499C

c.1495G>T

2 papers

NM_001349798.2

p.G499S

c.1495G>A

2 papers

NM_001349798.2

p.M498I

c.1494G>T

2 papers

NM_001349798.2

p.M498I

c.1494G>C