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.D362V

c.1085A>T

Surrounding Variants

1 paper

NM_001349798.2

p.D362G

c.1085A>G

1 paper

NM_001013415.2

p.D244E

c.732T>G

1 paper

NM_001013415.2

p.D244E

c.732T>A

2 papers

NM_001349798.2

p.D362N

c.1084G>A

1 paper

NM_001349798.2

p.T363fs

c.1087_1088fs

1 paper

NM_001349798.2

p.T363S

c.1087A>T

1 paper

NM_001349798.2

p.T363insFs

c.1087_1088ins5

1 paper

NM_001349798.2

p.I361insFs

c.1081_1082insA

1 paper

NM_001349798.2

p.T363S

c.1088C>G

2 papers

NM_001349798.2

p.N364K

c.1092C>G

2 papers

NM_001349798.2

p.N364K

c.1092C>A

2 papers

NM_001349798.2

p.W365R

c.1093T>C