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

2 papers

NM_001349798.2

p.T450I

c.1349C>T

Surrounding Variants

3 papers

NM_001349798.2

p.T450fs

c.1348_1349fs

1 paper

NM_001349798.2

p.T450T

c.1350T>C

3 papers

NM_001349798.2

p.G451*

c.1351G>T

2 papers

NM_001349798.2

p.E449D

c.1347G>T

1 paper

NM_001349798.2

p.E449fs

c.1345_1346fs

2 papers

NM_001349798.2

p.G451R

c.1351G>C

1 paper

NM_001349798.2

p.E449D

c.1347G>C

2 papers

NM_001349798.2

p.G451R

c.1351G>A

1 paper

NM_001349798.2

p.W446_T450del5

c.1336_1349del15

1 paper

NM_001349798.2

p.G451E

c.1352G>A

1 paper

NM_001349798.2

p.E449K

c.1345G>A

1 paper

NM_001349798.2

p.E452*

c.1354G>T