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

53 papers

NM_001349798.2

p.R658*

c.1972C>T

NM_018315.5

p.R578*

c.1732C>T

Surrounding Variants

1 paper

NM_001349798.2

p.R658G

c.1972C>G

21 papers

NM_001349798.2

p.R658Q

c.1973G>A

1 paper

NM_001349798.2

p.N659S

c.1976A>G

1 paper

NM_001349798.2

p.L660fs

c.1978_1979fs

1 paper

NM_001349798.2

p.V661F

c.1981G>T

1 paper

NM_001349798.2

p.G654V

c.1961G>T

2 papers

NM_001349798.2

p.T662A

c.1984A>G

2 papers

NM_001349798.2

p.T653M

c.1958C>T

1 paper

NM_001349798.2

p.T653A

c.1957A>G

1 paper

NM_018315.5

p.K572_T573insFs

c.1716_1717insG

2 papers

NM_001349798.2

p.E664*

c.1990G>T

1 paper

NM_001349798.2

p.K652*

c.1954A>T