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

36 papers

NM_001349798.2

p.Y545C

c.1634A>G

Surrounding Variants

2 papers

NM_001349798.2

p.Y545F

c.1634A>T

1 paper

NM_001349798.2

p.Y545S

c.1634A>C

2 papers

NM_001349798.2

p.Y545*

c.1635T>G

2 papers

NM_001349798.2

p.Y545*

c.1635T>A

1 paper

NM_001349798.2

p.Y545N

c.1633T>A

1 paper

NM_001349798.2

p.S546P

c.1636T>C

1 paper

NM_001013415.2

p.P410_V426del0

c.1230_1277del48

3 papers

NM_001349798.2

p.V544G

c.1631T>G

1 paper

NM_001349798.2

p.V544A

c.1631T>C

3 papers

NM_001349798.2

p.R543_V544delFs

c.1629_1630delCT

9 papers

NM_001349798.2

p.S546L

c.1637C>T

3 papers

NM_001349798.2

p.S546*

c.1637C>G