Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPP3CA

Variant:p.S417fs

Back to variants list

PPP3CA

NM_000944.5:p.S417fs

hg38:chr4:101032357 ACT>N

Associated Papers

New variants and genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy.

Wang T et al.

Frontiers in Neuroscience, 2025

40548073 (PubMed )

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."