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.T695A

c.2083A>G

Surrounding Variants

1 paper

NM_001349798.2

p.E694V

c.2081A>T

1 paper

NM_001349798.2

p.T692_T695delFs

c.2075_2085del11

1 paper

NM_001349798.2

p.E693D

c.2079A>T

1 paper

NM_001349798.2

p.E693E

c.2079A>G

1 paper

NM_001349798.2

p.E693D

c.2079A>C

1 paper

NM_001349798.2

p.E693*

c.2077G>T

7 papers

NM_001349798.2

p.E693K

c.2077G>A

1 paper

NM_001349798.2

p.T692fs

c.2074_2075fs

1 paper

NM_001349798.2

p.T692T

c.2076T>C

1 paper

NM_001349798.2

p.L698L

c.2092C>T

1 paper

NM_001349798.2

p.L698M

c.2092C>A

1 paper

NM_001349798.2

p.T692A

c.2074A>G