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.D643V

c.1928A>T

Surrounding Variants

1 paper

NM_001349798.2

p.D643delFs

c.1927delC

1 paper

NM_001349798.2

p.D643N

c.1927G>A

2 papers

NM_001349798.2

p.G644R

c.1930G>C

2 papers

NM_001349798.2

p.G644R

c.1930G>A

3 papers

NM_001349798.2

p.G644V

c.1931G>T

2 papers

NM_001349798.2

p.G644E

c.1931G>A

2 papers

NM_001349798.2

p.D642G

c.1925A>G

1 paper

NM_001349798.2

p.D642N

c.1924G>A

1 paper

NM_001349798.2

p.T645S

c.1933A>T

1 paper

NM_001349798.2

p.S641L

c.1922C>T

4 papers

NM_001013415.2

p.S523*

c.1568C>G

NM_001349798.2

p.S641*

c.1922C>G

1 paper

NM_001349798.2

p.T645S

c.1934C>G