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

2 papers

NM_001349798.2

p.L77V

c.229T>G

Surrounding Variants

1 paper

NM_001349798.2

p.Q76L

c.227A>T

1 paper

NM_001349798.2

p.Q76delFs

c.226delG

2 papers

NM_001349798.2

p.E78*

c.232G>T

1 paper

NM_001349798.2

p.E79*

c.235G>T

1 paper

NM_001349798.2

p.G75*

c.223G>T

1 paper

NM_001349798.2

p.E79Q

c.235G>C

3 papers

NM_001349798.2

p.E79K

c.235G>A

1 paper

NM_001349798.2

p.L77_E78delFs

c.231_234del4

1 paper

NM_001349798.2

p.Q74L

c.221A>T

1 paper

NM_001349798.2

p.Q74P

c.221A>C

1 paper

NM_001349798.2

p.N80D

c.238A>G

1 paper

NM_001349798.2

p.N80H

c.238A>C