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.N392N

c.1176C>T

Surrounding Variants

1 paper

NM_001349798.2

p.N392K

c.1176C>G

1 paper

NM_001349798.2

p.N392K

c.1176C>A

50 papers

NM_001349798.2

p.R393*

c.1177C>T

NM_001013415.2

p.R275*

c.823C>T

2 papers

NM_001349798.2

p.R393fs

c.1177_1178fs

7 papers

NM_001349798.2

p.R393Q

c.1178G>A

1 paper

NM_001349798.2

p.G391delFs

c.1172delC

2 papers

NM_001349798.2

p.R393fs

c.1177_1178fs

1 paper

NM_001349798.2

p.G391A

c.1172G>C

4 papers

NM_001349798.2

p.G391D

c.1172G>A

1 paper

NM_001349798.2

p.I394R

c.1181T>G

1 paper

NM_001349798.2

p.G391fs

c.1171_1172fs

1 paper

NM_001349798.2

p.R393_I394delFs

c.1179_1180delTT