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

2 papers

NM_001349798.2

p.G397G

c.1191T>C

Surrounding Variants

1 paper

NM_001349798.2

p.G397fs

c.1189_1190fs

1 paper

NM_001349798.2

p.S398A

c.1192T>G

4 papers

NM_001349798.2

p.G397D

c.1190G>A

4 papers

NM_001349798.2

p.G397S

c.1189G>A

1 paper

NM_001349798.2

p.V395_S396delFs

c.1185_1188del4

6 papers

NM_001349798.2

p.S398F

c.1193C>T

1 paper

NM_001349798.2

p.S398Y

c.1193C>A

2 papers

NM_001349798.2

p.S396fs

c.1186_1187fs

2 papers

NM_001349798.2

p.D399Y

c.1195G>T

1 paper

NM_001349798.2

p.S396I

c.1187G>T

1 paper

NM_001349798.2

p.S396insFs

c.1186_1187ins5

1 paper

NM_001349798.2

p.D399H

c.1195G>C