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

40 papers

NM_001349798.2

p.R367*

c.1099C>T

Surrounding Variants

1 paper

NM_001349798.2

p.R367ins1

c.1099_1100insATA

1 paper

NM_001349798.2

p.R367fs

c.1099_1100fs

2 papers

NM_001349798.2

p.R367P

c.1100G>C

1 paper

NM_001349798.2

p.R366M

c.1097G>T

1 paper

NM_001349798.2

p.R366delFs

c.1096delT

1 paper

NM_001349798.2

p.R366W

c.1096A>T

1 paper

NM_001349798.2

p.W365C

c.1095G>T

1 paper

NM_001349798.2

p.W365C

c.1095G>C

3 papers

NM_001349798.2

p.W365*

c.1095G>A

4 papers

NM_001349798.2

p.W365*

c.1094G>A

2 papers

NM_001349798.2

p.W365R

c.1093T>C

2 papers

NM_001349798.2

p.W365R

c.1093T>A