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.N598Y

c.1792A>T

Surrounding Variants

1 paper

NM_001349798.2

p.N598fs

c.1792_1793fs

2 papers

NM_001349798.2

p.N598D

c.1792A>G

1 paper

NM_001349798.2

p.N598I

c.1793A>T

1 paper

NM_001013415.2

p.N480S

c.1439A>G

1 paper

NM_001349798.2

p.S582_N598ins5

c.1746_1793dup48

2 papers

NM_001013415.2

p.G479E

c.1436G>A

NM_001349798.2

p.G597E

c.1790G>A

1 paper

NM_001349798.2

p.G597W

c.1789G>T

1 paper

NM_018315.5

p.G517R

c.1549G>C

1 paper

NM_001349798.2

p.A599T

c.1795G>A

1 paper

NM_018315.5

p.G517R

c.1549G>A

1 paper

NM_001349798.2

p.I593_S596delFs

c.1778_1788del11

2 papers

NM_001349798.2

p.A599V

c.1796C>T