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

1–12 of 1714 variants

278 papers

NM_001349798.2

p.R465H

c.1394G>A

275 papers

NM_001349798.2

p.R465C

c.1393C>T

239 papers

NM_001349798.2

p.R505C

c.1513C>T

190 papers

NM_001349798.2

p.R479Q

c.1436G>A

86 papers

NM_001349798.2

p.R505G

c.1513C>G

79 papers

NM_001349798.2

p.R689W

c.2065C>T

71 papers

NM_001349798.2

p.R278*

c.832C>T

71 papers

NM_001349798.2

p.S582L

c.1745C>T

59 papers

NM_001349798.2

p.R505L

c.1514G>T

52 papers

NM_001349798.2

p.R658*

c.1972C>T

49 papers

NM_001349798.2

p.R393*

c.1177C>T

41 papers

NM_001349798.2

p.G423V

c.1268G>T