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

4 papers

NM_001349798.2

p.D560N

c.1678G>A

Surrounding Variants

1 paper

NM_001349798.2

p.D560Y

c.1678G>T

2 papers

NM_001349798.2

p.D560H

c.1678G>C

2 papers

NM_001349798.2

p.D560G

c.1679A>G

1 paper

NM_001349798.2

p.D560D

c.1680T>C

1 paper

NM_001349798.2

p.L559P

c.1676T>C

1 paper

NM_001349798.2

p.L559F

c.1675C>T

1 paper

NM_001013415.2

p.L441V

c.1321C>G

1 paper

NM_001349798.2

p.L559I

c.1675C>A

1 paper

NM_001349798.2

p.T561I

c.1682C>T

3 papers

NM_001349798.2

p.S558F

c.1673C>T

1 paper

NM_001349798.2

p.S562L

c.1685C>T

3 papers

NM_001349798.2

p.S562*

c.1685C>G