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.L469L

c.1407T>C

Surrounding Variants

1 paper

NM_001349798.2

p.L469P

c.1406T>C

1 paper

NM_001349798.2

p.L469H

c.1406T>A

4 papers

NM_001349798.2

p.H470Y

c.1408C>T

1 paper

NM_001349798.2

p.H470R

c.1409A>G

1 paper

NM_001349798.2

p.H470P

c.1409A>C

1 paper

NM_001349798.2

p.E471*

c.1411G>T

1 paper

NM_001349798.2

p.E471K

c.1411G>A

3 papers

NM_001349798.2

p.H468R

c.1403A>G

2 papers

NM_001349798.2

p.H468Y

c.1402C>T

6 papers

NM_001349798.2

p.E471G

c.1412A>G

5 papers

NM_001349798.2

p.M467I

c.1401G>T

1 paper

NM_001349798.2

p.M467Fs

c.1401delinsTGTATGFs