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

6 papers

NM_001349798.2

p.H540Y

c.1618C>T

Surrounding Variants

1 paper

NM_001349798.2

p.H540N

c.1618C>A

1 paper

NM_001349798.2

p.G539delFs

c.1615_1616delCC

2 papers

NM_001349798.2

p.H540L

c.1619A>T

2 papers

NM_001349798.2

p.G539V

c.1616G>T

1 paper

NM_001349798.2

p.G539W

c.1615G>T

1 paper

NM_001349798.2

p.G539R

c.1615G>A

1 paper

NM_001349798.2

p.T536_Q538delFs

c.1607_1613del7

1 paper

NM_001349798.2

p.T541S

c.1622C>G

1 paper

NM_001013415.2

p.Q420L

c.1259A>T

1 paper

NM_001349798.2

p.Q538R

c.1613A>G

2 papers

NM_001349798.2

p.Q538*

c.1612C>T

1 paper

NM_001349798.2

p.L537fs

c.1609_1610fs