Varaico: Literature-Extracted Genetic Variants

Gene:TSPOAP1
Variant:p.A180delFs
Back to variants list

TSPOAP1

NM_004758.4:p.A180delFs

Associated Papers

Expanding the genotypic and phenotypic spectrum of DYT-TSPOAP1: First report from India.

Holla VV et al.

Parkinsonism & Related Disorders, 2026

Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.

Mencacci NE et al.

The Journal of Clinical Investigation, 2021

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."