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

280 papers

NM_001349798.2

p.R465H

c.1394G>A

NM_018315.5

p.R385H

c.1154G>A

Surrounding Variants

34 papers

NM_001349798.2

p.R465L

c.1394G>T

7 papers

NM_001349798.2

p.R465P

c.1394G>C

1 paper

NM_001349798.2

p.R465delins

c.1393_1394delinsTC

1 paper

NM_001349798.2

p.R465fs

c.1393_1394fs

276 papers

NM_001349798.2

p.R465C

c.1393C>T

NM_018315.5

p.R385C

c.1153C>T

7 papers

NM_001349798.2

p.R465G

c.1393C>G

7 papers

NM_001349798.2

p.R465S

c.1393C>A

1 paper

NM_001349798.2

p.C466R

c.1396T>C

1 paper

NM_001349798.2

p.V464G

c.1391T>G

4 papers

NM_001349798.2

p.V464E

c.1391T>A

2 papers

NM_001349798.2

p.C466F

c.1397G>T

3 papers

NM_001349798.2

p.C466Y

c.1397G>A