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.G57D

c.170G>A

Surrounding Variants

2 papers

NM_001349798.2

p.G57V

c.170G>T

1 paper

NM_001349798.2

p.G57S

c.169G>A

1 paper

NM_001349798.2

p.E58*

c.172G>T

1 paper

NM_001349798.2

p.E58K

c.172G>A

1 paper

NM_001349798.2

p.E58V

c.173A>T

1 paper

NM_001349798.2

p.N56S

c.167A>G

1 paper

NM_001349798.2

p.V59F

c.175G>T

1 paper

NM_001349798.2

p.A54_R55del1

c.162_164delCTT

1 paper

NM_001349798.2

p.V59D

c.176T>A

1 paper

NM_001349798.2

p.R55W

c.163A>T

1 paper

NM_001349798.2

p.V59_V60delFs

c.175_179del5

1 paper

NM_001349798.2

p.A54T

c.160G>A