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.Q277*

c.829C>T

Surrounding Variants

1 paper

NM_001349798.2

p.F276Y

c.827T>A

71 papers

NM_001349798.2

p.R278*

c.832C>T

4 papers

NM_001349798.2

p.R278Q

c.833G>A

1 paper

NM_001349798.2

p.Q277del1

c.829_831delTTG

4 papers

NM_001349798.2

p.D279Y

c.835G>T

1 paper

NM_001349798.2

p.M269_R278delFs

c.806_834del29

7 papers

NM_001349798.2

p.Q275*

c.823C>T

1 paper

NM_001349798.2

p.D279D

c.837C>T

1 paper

NM_001349798.2

p.P274L

c.821C>T

1 paper

NM_001349798.2

p.F280L

c.838T>C

1 paper

NM_001349798.2

p.P274S

c.820C>T

1 paper

NM_001349798.2

p.P274T

c.820C>A