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

2 papers

NM_001349798.2

p.W365R

c.1093T>A

Surrounding Variants

2 papers

NM_001349798.2

p.W365R

c.1093T>C

4 papers

NM_001349798.2

p.W365*

c.1094G>A

2 papers

NM_001349798.2

p.N364K

c.1092C>G

2 papers

NM_001349798.2

p.N364K

c.1092C>A

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

1 paper

NM_001349798.2

p.R366W

c.1096A>T

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.T363S

c.1088C>G

1 paper

NM_001349798.2

p.T363fs

c.1087_1088fs