Home
Downloads
UCSC Genome Browser Track
Email Updates
Menu
Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CERT1
Variant:
p.D187E
Back to variants list
CERT1
NM_001379029.1:p.D187E
hg38:chr5:75425395 A>T
Frequencies & domains
Associated Papers
Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT.
Murakami H et al.
Plos One,
2020
33347465 (PubMed
)
Select a paper to view details