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

86 papers

NM_001349798.2

p.R505G

c.1513C>G

Surrounding Variants

240 papers

NM_001349798.2

p.R505C

c.1513C>T

NM_018315.5

p.R425C

c.1273C>T

32 papers

NM_001349798.2

p.R505S

c.1513C>A

59 papers

NM_001349798.2

p.R505L

c.1514G>T

9 papers

NM_001349798.2

p.R505P

c.1514G>C

41 papers

NM_001349798.2

p.R505H

c.1514G>A

1 paper

NM_001349798.2

p.R505delFs

c.1513delG

1 paper

NM_001349798.2

p.V504_R505del1

c.1511_1513delGGA

2 papers

NM_001349798.2

p.V504V

c.1512C>T

6 papers

NM_001349798.2

p.V504I

c.1510G>A

3 papers

NM_001349798.2

p.C506Y

c.1517G>A

1 paper

NM_001349798.2

p.C506_V507insFs

c.1518_1519insCA

1 paper

NM_001349798.2

p.C506*

c.1518T>A