Varaico: Literature-Extracted Genetic Variants

Gene:PSMB5
Variant:p.L27Q
Back to variants list

PSMB5

NM_002797.5:p.L27Q

Associated Papers

Loss-of-function mutations in the dystonia gene THAP1 impair proteasome function by inhibiting PSMB5 expression.

Ramage DE et al.

Nature Communications, 2025

39929834 (PubMed )
Supplement: 41467_2025_56782_MOESM4_ESM.xlsx › THAP1_Deep_Mutational_Scan

PASTMUS: mapping functional elements at single amino acid resolution in human cells.

Zhang X et al.

Genome Biology, 2019

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."