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.D431E

c.1293C>G

Surrounding Variants

1 paper

NM_001349798.2

p.D431E

c.1293C>A

1 paper

NM_001349798.2

p.D431V

c.1292A>T

2 papers

NM_001349798.2

p.N432S

c.1295A>G

1 paper

NM_001349798.2

p.R430I

c.1289G>T

1 paper

NM_001349798.2

p.R430*

c.1288A>T

1 paper

NM_001349798.2

p.M429I

c.1287G>T

1 paper

NM_001349798.2

p.M429I

c.1287G>C

1 paper

NM_001349798.2

p.M429I

c.1287G>A

1 paper

NM_001349798.2

p.Q428Q

c.1284A>G

1 paper

NM_001349798.2

p.Q428fs

c.1282_1283fs

1 paper

NM_001349798.2

p.I435V

c.1303A>G

1 paper

NM_001349798.2

p.I435delFs

c.1303delT