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.H535delFs

c.1604delT

Surrounding Variants

1 paper

NM_001349798.2

p.H535fs

c.1603_1604fs

1 paper

NM_001349798.2

p.T536fs

c.1606_1607fs

1 paper

NM_001349798.2

p.T536P

c.1606A>C

1 paper

NM_001349798.2

p.H535P

c.1604A>C

1 paper

NM_001349798.2

p.H535Y

c.1603C>T

1 paper

NM_001013415.2

p.T418insFs

c.1252dupA

1 paper

NM_001013415.2

p.T418fs

c.1252_1253fs

1 paper

NM_001349798.2

p.L534V

c.1600C>G

1 paper

NM_001349798.2

p.L537fs

c.1609_1610fs

1 paper

NM_001349798.2

p.L537L

c.1611G>A

1 paper

NM_001349798.2

p.C533F

c.1598G>T

2 papers

NM_001349798.2

p.Q538*

c.1612C>T