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.E39D

c.117G>C

Surrounding Variants

1 paper

NM_001349798.2

p.E39D

c.117G>T

1 paper

NM_001349798.2

p.E40Q

c.118G>C

1 paper

NM_001349798.2

p.E38_E39delFs

c.112_115del4

3 papers

NM_001349798.2

p.E39K

c.115G>A

7 papers

NM_001349798.2

p.E39delFs

c.117delC

1 paper

NM_001349798.2

p.E38fs

c.112_113fs

1 paper

NM_001349798.2

p.Q41*

c.121C>T

1 paper

NM_001349798.2

p.V36_V37delFs

c.108_111del4

1 paper

NM_001349798.2

p.V37insFs

c.111dupA

1 paper

NM_001349798.2

p.E38K

c.112G>A

1 paper

NM_001349798.2

p.Q41H

c.123G>T

1 paper

NM_001349798.2

p.Q41H

c.123G>C