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.W606*

c.1817G>A

Surrounding Variants

1 paper

NM_001349798.2

p.W606C

c.1818G>T

2 papers

NM_001349798.2

p.W606C

c.1818G>C

1 paper

NM_001349798.2

p.W606*

c.1818G>A

1 paper

NM_001349798.2

p.I605N

c.1814T>A

1 paper

NM_001349798.2

p.D607delFs

c.1819delC

1 paper

NM_018315.5

p.I528F

c.1582A>T

1 paper

NM_001349798.2

p.I608V

c.1822A>G

1 paper

NM_001349798.2

p.K604*

c.1810A>T

1 paper

NM_001349798.2

p.S601_V603delFs

c.1803_1809del7

1 paper

NM_001349798.2

p.V603V

c.1809T>G

1 paper

NM_001349798.2

p.V603A

c.1808T>C

1 paper

NM_001349798.2

p.V603delFs

c.1807delC