Varaico: Literature-Extracted Genetic Variants

Gene:PNKP
Variant:p.D171N
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PNKP

NM_007254.4:p.D171N

Associated Papers

Aberrant DNA repair reveals a vulnerability in histone H3.3-mutant brain tumors.

Giacomini G et al.

Nucleic Acids Research, 2024

Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair.

Kalasova I et al.

Nucleic Acids Research, 2020

Multiple myeloma-associated hDIS3 mutations cause perturbations in cellular RNA metabolism and suggest hDIS3 PIN domain as a potential drug target.

Tomecki R et al.

Nucleic Acids Research, 2014

24150935 (PubMed )
Supplement: supp_gkt930_nar-01708-y-2013-File012.pdf

Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.

Reynolds JJ et al.

Nucleic Acids Research, 2012

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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."