Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.F22C
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THAP1

NM_018105.3:p.F22C

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
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