Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.P304S
Back to variants list

MAPT

NM_001377265.1:p.P304S

Associated Papers

DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Jung H et al.

Nature Communications, 2019

31537801 (PubMed )
Supplement: 41467_2019_12159_MOESM8_ESM.xlsx › Sheet1

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

Zatkova A et al.

Human Mutation, 2004

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

Fahsold R et al.

American Journal of Human Genetics, 2000

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."