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

36 papers

NM_001349798.2

p.R479*

c.1435C>T

Surrounding Variants

36 papers

NM_001349798.2

p.R479G

c.1435C>G

29 papers

NM_018315.5

p.R399L

c.1196G>T

NM_001349798.2

p.R479L

c.1436G>T

31 papers

NM_001349798.2

p.R479P

c.1436G>C

192 papers

NM_001349798.2

p.R479Q

c.1436G>A

NM_018315.5

p.R399Q

c.1196G>A

NM_001013415.2

p.R361Q

c.1082G>A

8 papers

NM_001349798.2

p.S478F

c.1433C>T

1 paper

NM_001349798.2

p.S478Y

c.1433C>A

1 paper

NM_001349798.2

p.G477_R479insFs

c.1430_1436dup7

1 paper

NM_001349798.2

p.R479fs

c.1435_1436fs

1 paper

NM_001349798.2

p.S478T

c.1432T>A

2 papers

NM_001349798.2

p.D480Y

c.1438G>T

4 papers

NM_001349798.2

p.D480N

c.1438G>A

1 paper

NM_001349798.2

p.G477fs

c.1429_1430fs