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.P247T

c.739C>A

Surrounding Variants

1 paper

NM_001349798.2

p.P247R

c.740C>G

1 paper

NM_001349798.2

p.G246_P247delFs

c.736_739del4

3 papers

NM_001349798.2

p.G246*

c.736G>T

1 paper

NM_001349798.2

p.E248*

c.742G>T

1 paper

NM_001349798.2

p.G246R

c.736G>C

1 paper

NM_001349798.2

p.G246R

c.736G>A

1 paper

NM_001349798.2

p.E248A

c.743A>C

6 papers

NM_018315.5

p.E168D

c.504G>T

NM_001349798.2

p.E248D

c.744G>T

1 paper

NM_001349798.2

p.S245I

c.734G>T

5 papers

NM_001349798.2

p.E248D

c.744G>C

2 papers

NM_001349798.2

p.S245T

c.734G>C

1 paper

NM_018315.5

p.K169E

c.505A>G