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.E63*

c.187G>T

Surrounding Variants

1 paper

NM_001349798.2

p.E63K

c.187G>A

1 paper

NM_001349798.2

p.V62L

c.184G>C

1 paper

NM_001349798.2

p.V62I

c.184G>A

1 paper

NM_001349798.2

p.E63delFs

c.189delT

1 paper

NM_001349798.2

p.P64H

c.191C>A

1 paper

NM_001349798.2

p.G61G

c.183A>C

1 paper

NM_001349798.2

p.G61fs

c.181_182fs

1 paper

NM_001349798.2

p.V59_V60delFs

c.175_179del5

2 papers

NM_001349798.2

p.R65S

c.195A>C

1 paper

NM_001349798.2

p.V59D

c.176T>A

1 paper

NM_001349798.2

p.V59F

c.175G>T

1 paper

NM_001349798.2

p.G67R

c.199G>C