Varaico: Literature-Extracted Genetic Variants

FBXL4

165 papers

RefSeq Summary

This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase...

Pfam Domains

F-boxaa 280–322UCSCF-box domain

LRR_FBXL15aa 309–512UCSCF-box/LRR-repeat protein 15, leucine rich repeat domain

Gene Aliases

HGNC Name

F-box and leucine rich repeat protein 4

HGNC Alias Symbols

FBL4; FBL5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001278716.2

p.D591G

c.1772A>G

Surrounding Variants

1 paper

NM_001278716.2

p.S593T

c.1777T>A

1 paper

NM_001278716.2

p.L587P

c.1760T>C

1 paper

NM_001278716.2

p.S596L

c.1787C>T

8 papers

NM_001278716.2

p.Q597P

c.1790A>C

1 paper

NM_001278716.2

p.C584*

c.1752T>A

1 paper

NM_001278716.2

p.C584delFs

c.1750delA

8 papers

NM_001278716.2

p.C584R

c.1750T>C

1 paper

NM_001278716.2

p.L580R

c.1739T>G

4 papers

NM_001278716.2

p.V613E

c.1838T>A

1 paper

NM_001278716.2

p.G568G

c.1704A>C

1 paper

NM_001278716.2

p.G568V

c.1703G>T

14 papers

NM_001278716.2

p.G568A

c.1703G>C