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

1 paper

NM_001349798.2

p.A448T

c.1342G>A

Surrounding Variants

1 paper

NM_001349798.2

p.A448G

c.1343C>G

1 paper

NM_001349798.2

p.N447fs

c.1339_1340fs

1 paper

NM_001349798.2

p.E449K

c.1345G>A

2 papers

NM_001349798.2

p.W446C

c.1338G>T

1 paper

NM_001349798.2

p.W446fs

c.1336_1337fs

2 papers

NM_001349798.2

p.W446C

c.1338G>C

10 papers

NM_001349798.2

p.W446*

c.1338G>A

2 papers

NM_001349798.2

p.E449D

c.1347G>T

1 paper

NM_018315.5

p.W366L

c.1097G>T

1 paper

NM_001349798.2

p.E449fs

c.1345_1346fs

1 paper

NM_001349798.2

p.E449D

c.1347G>C

10 papers

NM_001349798.2

p.W446*

c.1337G>A