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

3 papers

NM_001013415.2

p.P83L

c.248C>T

NM_001349798.2

p.P201L

c.602C>T

Surrounding Variants

1 paper

NM_001349798.2

p.V200_P201delFs

c.600_601delGT

3 papers

NM_001349798.2

p.P201S

c.601C>T

1 paper

NM_001349798.2

p.V200E

c.599T>A

1 paper

NM_001349798.2

p.C202delFs

c.605delC

1 paper

NM_001349798.2

p.L199fs

c.595_596fs

2 papers

NM_001349798.2

p.S203A

c.607T>G

3 papers

NM_001349798.2

p.S203*

c.608C>G

3 papers

NM_001349798.2

p.S203*

c.608C>A

1 paper

NM_001349798.2

p.L199F

c.595C>T

5 papers

NM_001349798.2

p.A204T

c.610G>A

1 paper

NM_001349798.2

p.G198G

c.594G>A

1 paper

NM_001349798.2

p.G198fs

c.592_593fs