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.I454T

c.1361T>C

Surrounding Variants

1 paper

NM_001349798.2

p.I454M

c.1362A>G

1 paper

NM_001349798.2

p.H455Y

c.1363C>T

1 paper

NM_001349798.2

p.H455D

c.1363C>G

1 paper

NM_001349798.2

p.H455N

c.1363C>A

6 papers

NM_018315.5

p.C373Y

c.1118G>A

NM_001349798.2

p.C453Y

c.1358G>A

1 paper

NM_001349798.2

p.T456A

c.1366A>G

1 paper

NM_001349798.2

p.T456I

c.1367C>T

1 paper

NM_001349798.2

p.E452*

c.1354G>T

2 papers

NM_001349798.2

p.E452K

c.1354G>A

1 paper

NM_001349798.2

p.I454_T456del3

c.1360_1367del9

1 paper

NM_001349798.2

p.G451E

c.1352G>A

3 papers

NM_001349798.2

p.G451*

c.1351G>T