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.N401I

c.1202A>T

Surrounding Variants

2 papers

NM_001349798.2

p.N401S

c.1202A>G

1 paper

NM_001349798.2

p.N401T

c.1202A>C

5 papers

NM_001349798.2

p.D400D

c.1200C>T

2 papers

NM_001349798.2

p.T402A

c.1204A>G

1 paper

NM_001349798.2

p.T402P

c.1204A>C

1 paper

NM_001349798.2

p.T402insFs

c.1205_1206insT

1 paper

NM_001349798.2

p.T402N

c.1205C>A

3 papers

NM_001349798.2

p.D400_N401del1

c.1199_1201delTGT

1 paper

NM_001349798.2

p.T402fs

c.1204_1205fs

2 papers

NM_001349798.2

p.D400Y

c.1198G>T

1 paper

NM_001349798.2

p.D400H

c.1198G>C

4 papers

NM_001349798.2

p.D400N

c.1198G>A