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.S556fs

c.1666_1667fs

Surrounding Variants

2 papers

NM_001349798.2

p.G557R

c.1669G>C

1 paper

NM_001349798.2

p.S556T

c.1667G>C

2 papers

NM_001349798.2

p.G557R

c.1669G>A

3 papers

NM_001349798.2

p.G557E

c.1670G>A

1 paper

NM_001349798.2

p.V555delFs

c.1663_1664delAC

1 paper

NM_001349798.2

p.G557G

c.1671A>G

2 papers

NM_001349798.2

p.V555L

c.1663G>T

1 paper

NM_001349798.2

p.V555L

c.1663G>C

3 papers

NM_001349798.2

p.S558F

c.1673C>T

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