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.P344insFs

c.1031_1032ins11

Surrounding Variants

4 papers

NM_001349798.2

p.P344L

c.1031C>T

1 paper

NM_001349798.2

p.P344Q

c.1031C>A

1 paper

NM_001349798.2

p.K343fs

c.1027_1028fs

1 paper

NM_001349798.2

p.G345D

c.1034G>A

1 paper

NM_001349798.2

p.K343T

c.1028A>C

1 paper

NM_001349798.2

p.F346S

c.1037T>C

3 papers

NM_001349798.2

p.I342K

c.1025T>A

1 paper

NM_001349798.2

p.I347ins1

c.1039_1040insTCT

1 paper

NM_001349798.2

p.V341fs

c.1021_1022fs

3 papers

NM_001349798.2

p.R339_V341delFs

c.1017_1021del5

1 paper

NM_001349798.2

p.K340delFs

c.1020delT

2 papers

NM_001349798.2

p.I347M

c.1041A>G