KEGG   VARIANT: 84676v1
Entry
84676v1                      Variant                               
Name
MURF1 mutation
Type
Loss of function
Gene
TRIM63  tripartite motif containing 63 [KO:K10655]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606131
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00292  Hypertrophic cardiomyopathy
Reference
PMID:25801283
  Authors
Olive M, Abdul-Hussein S, Oldfors A, Gonzalez-Costello J, van der Ven PF, Furst DO, Gonzalez L, Moreno D, Torrejon-Escribano B, Alio J, Pou A, Ferrer I, Tajsharghi H
  Title
New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.
  Journal
Hum Mol Genet 24:3638-50 (2015)
DOI:10.1093/hmg/ddv108
LinkDB

DBGET integrated database retrieval system