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.R357delFs

c.1070delC

Surrounding Variants

1 paper

NM_001349798.2

p.R357T

c.1070G>C

1 paper

NM_001349798.2

p.Y355_I356delFs

c.1065_1066delTG

1 paper

NM_001349798.2

p.H359R

c.1076A>G

1 paper

NM_001349798.2

p.H359H

c.1077C>T

1 paper

NM_001349798.2

p.I361insFs

c.1081_1082insA

1 paper

NM_001349798.2

p.S353S

c.1059T>C

2 papers

NM_001349798.2

p.D362N

c.1084G>A

1 paper

NM_001349798.2

p.D362V

c.1085A>T

1 paper

NM_001349798.2

p.D362G

c.1085A>G

1 paper

NM_001349798.2

p.I347_K352delFs

c.1039_1055del17

1 paper

NM_001013415.2

p.D244E

c.732T>G

1 paper

NM_001013415.2

p.D244E

c.732T>A