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.E531fs

c.1591_1592fs

Surrounding Variants

1 paper

NM_001349798.2

p.E531K

c.1591G>A

1 paper

NM_001349798.2

p.T530I

c.1589C>T

1 paper

NM_001349798.2

p.T530delFs

c.1588delT

1 paper

NM_001349798.2

p.T530fs

c.1588_1589fs

2 papers

NM_001349798.2

p.T532P

c.1594A>C

2 papers

NM_001349798.2

p.T532I

c.1595C>T

2 papers

NM_001349798.2

p.T532N

c.1595C>A

1 paper

NM_001349798.2

p.T532fs

c.1594_1595fs

1 paper

NM_001349798.2

p.E529K

c.1585G>A

1 paper

NM_001349798.2

p.C533F

c.1598G>T

2 papers

NM_001349798.2

p.P528delFs

c.1583delG

1 paper

NM_001349798.2

p.D527_P528delFs

c.1579_1582del4