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.S349I

c.1046G>T

Surrounding Variants

1 paper

NM_001349798.2

p.H348_S349delFs

c.1044_1045delTG

1 paper

NM_001349798.2

p.I347_S349delFs

c.1039_1046del8

1 paper

NM_001349798.2

p.S349G

c.1045A>G

1 paper

NM_001349798.2

p.G345_H348del4

c.1033_1043del12

1 paper

NM_001349798.2

p.G345_S349del0

c.1035_1046del12

1 paper

NM_001349798.2

p.H348fs

c.1042_1043fs

1 paper

NM_001349798.2

p.F346_P350delFs

c.1036_1049del14

1 paper

NM_001349798.2

p.W351G

c.1051T>G

2 papers

NM_001349798.2

p.I347M

c.1041A>G

5 papers

NM_001349798.2

p.W351*

c.1052G>A

5 papers

NM_001349798.2

p.W351*

c.1053G>A

1 paper

NM_001349798.2

p.I347ins1

c.1039_1040insTCT