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

4 papers

NM_001349798.2

p.L443F

c.1327C>T

Surrounding Variants

5 papers

NM_001349798.2

p.L443H

c.1328T>A

1 paper

NM_001349798.2

p.G437_L443delFs

c.1311_1327del17

1 paper

NM_001349798.2

p.K444E

c.1330A>G

1 paper

NM_001349798.2

p.G437_L443del7

c.1309_1328del21

4 papers

NM_001349798.2

p.K444fs

c.1330_1331fs

1 paper

NM_001349798.2

p.R441fs

c.1321_1322fs

8 papers

NM_001349798.2

p.R441L

c.1322G>T

2 papers

NM_001349798.2

p.R441P

c.1322G>C

25 papers

NM_001349798.2

p.R441Q

c.1322G>A

NM_018315.5

p.R361Q

c.1082G>A

1 paper

NM_001349798.2

p.R441delFs

c.1321delG

1 paper

NM_001349798.2

p.K444fs

c.1330_1331fs

1 paper

NM_001349798.2

p.V445L

c.1333G>T