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.E31D

c.93A>T

Surrounding Variants

2 papers

NM_001349798.2

p.E31K

c.91G>A

1 paper

NM_001349798.2

p.Q32R

c.95A>G

4 papers

NM_001349798.2

p.M33R

c.98T>G

3 papers

NM_001349798.2

p.D29V

c.86A>T

1 paper

NM_001349798.2

p.V28del1

c.82_83delTAC

1 paper

NM_001349798.2

p.D29H

c.85G>C

1 paper

NM_001349798.2

p.N34I

c.101A>T

1 paper

NM_001349798.2

p.N34S

c.101A>G

1 paper

NM_001349798.2

p.N34T

c.101A>C

7 papers

NM_001349798.2

p.R35C

c.103C>T

2 papers

NM_001349798.2

p.V28I

c.82G>A

1 paper

NM_001349798.2

p.R35H

c.104G>A