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

6 papers

NM_001349798.2

p.E471G

c.1412A>G

Surrounding Variants

1 paper

NM_001349798.2

p.E471*

c.1411G>T

1 paper

NM_001349798.2

p.E471K

c.1411G>A

2 papers

NM_001349798.2

p.E471fs

c.1411_1412fs

2 papers

NM_001349798.2

p.K472E

c.1414A>G

1 paper

NM_001349798.2

p.H470R

c.1409A>G

1 paper

NM_001349798.2

p.K472T

c.1415A>C

1 paper

NM_001349798.2

p.H470P

c.1409A>C

4 papers

NM_001349798.2

p.H470Y

c.1408C>T

1 paper

NM_001349798.2

p.K472N

c.1416A>T

1 paper

NM_001349798.2

p.L469L

c.1407T>C

8 papers

NM_001349798.2

p.R473fs

c.1417_1418fs

1 paper

NM_001349798.2

p.R473G

c.1417A>G