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

1–12 of 182 variants

20 papers

NM_001278716.2

p.R435*

c.1303C>T

18 papers

NM_001278716.2

p.R482W

c.1444C>T

14 papers

NM_001278716.2

p.G568A

c.1703G>C

12 papers

NM_001278716.2

p.C547*

c.1641T>A

12 papers

NM_001278716.2

p.C547_D548delFs

c.1641_1642delCA

11 papers

NM_001278716.2

p.R98*

c.292C>T

10 papers

NM_001278716.2

p.Q519*

c.1555C>T

9 papers

NM_001278716.2

p.R22*

c.64C>T

9 papers

NM_001278716.2

p.R435L

c.1304G>T

8 papers

NM_001278716.2

p.R206*

c.616C>T

8 papers

NM_001278716.2

p.G356delFs

c.1067delC

8 papers

NM_001278716.2

p.C584R

c.1750T>C