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.V515L

c.1543G>C

Surrounding Variants

1 paper

NM_001349798.2

p.V515I

c.1543G>A

5 papers

NM_001349798.2

p.V514F

c.1540G>T

3 papers

NM_001349798.2

p.S516G

c.1546A>G

1 paper

NM_001349798.2

p.S516R

c.1546A>C

1 paper

NM_001349798.2

p.S516R

c.1548T>G

1 paper

NM_001349798.2

p.S516R

c.1548T>A

1 paper

NM_001349798.2

p.R513M

c.1538G>T

2 papers

NM_001349798.2

p.R513K

c.1538G>A

3 papers

NM_001349798.2

p.G517R

c.1549G>C

3 papers

NM_001349798.2

p.G517R

c.1549G>A

4 papers

NM_001349798.2

p.R513W

c.1537A>T

1 paper

NM_001349798.2

p.R512S

c.1536G>T