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.D591E

c.1773C>A

Surrounding Variants

1 paper

NM_001349798.2

p.D591V

c.1772A>T

1 paper

NM_001349798.2

p.D591Y

c.1771G>T

1 paper

NM_001349798.2

p.D591N

c.1771G>A

1 paper

NM_001349798.2

p.N592S

c.1775A>G

1 paper

NM_001349798.2

p.I593fs

c.1777_1778fs

1 paper

NM_001349798.2

p.K590R

c.1769A>G

2 papers

NM_001349798.2

p.L589P

c.1766T>C

5 papers

NM_001349798.2

p.L594F

c.1780C>T

1 paper

NM_001349798.2

p.L594R

c.1781T>G

2 papers

NM_001349798.2

p.L594P

c.1781T>C

1 paper

NM_001349798.2

p.E588Fs

c.1762delinsGAFs

3 papers

NM_001349798.2

p.M587delFs

c.1761delC