Home
Downloads
UCSC Genome Browser Track
Email Updates
Menu
Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
TPP1
Variant:
p.I287S
Back to variants list
TPP1
NM_000391.4:p.I287S
hg38:chr11:6616687 A>C
Frequencies & domains
Associated Papers
Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.
Walus M et al.
Human Mutation,
2010
20340139 (PubMed
)
Select a paper to view details