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.Q581delFs

c.1742delT

Surrounding Variants

2 papers

NM_001349798.2

p.S582A

c.1744T>G

8 papers

NM_001349798.2

p.S582P

c.1744T>C

1 paper

NM_001349798.2

p.Q581delFs

c.1741delG

73 papers

NM_001349798.2

p.S582L

c.1745C>T

NM_018315.5

p.S502L

c.1505C>T

NM_001013415.2

p.S464L

c.1391C>T

2 papers

NM_001349798.2

p.Q581*

c.1741C>T

1 paper

NM_001349798.2

p.S582S

c.1746G>A

1 paper

NM_001349798.2

p.H580Q

c.1740C>G

1 paper

NM_001349798.2

p.H580Q

c.1740C>A

1 paper

NM_001349798.2

p.S582_L583Fs

c.1746_1747delinsCFs

1 paper

NM_001349798.2

p.H580R

c.1739A>G

1 paper

NM_001349798.2

p.L583S

c.1748T>C

7 papers

NM_001349798.2

p.H580Y

c.1738C>T