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

2 papers

NM_001349798.2

p.T439A

c.1315A>G

Surrounding Variants

1 paper

NM_001349798.2

p.T439I

c.1316C>T

8 papers

NM_001349798.2

p.S438F

c.1313C>T

1 paper

NM_001349798.2

p.S438P

c.1312T>C

1 paper

NM_001349798.2

p.D440Y

c.1318G>T

1 paper

NM_001349798.2

p.D440H

c.1318G>C

16 papers

NM_001349798.2

p.D440N

c.1318G>A

11 papers

NM_001349798.2

p.G437V

c.1310G>T

6 papers

NM_001349798.2

p.G437E

c.1310G>A

3 papers

NM_001349798.2

p.G437*

c.1309G>T

6 papers

NM_001349798.2

p.G437R

c.1309G>C

6 papers

NM_001349798.2

p.G437R

c.1309G>A

12 papers

NM_001349798.2

p.R441W

c.1321C>T