Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.S43C
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CDKN2A

NM_000077.5:p.S43C

Associated Papers

Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.

Kimura H et al.

Elife, 2025

40238651 (PubMed )
Supplement: elife-95347-supp2.xlsx › Appendix_1-table_2

Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.

Kimura H et al.

Biorxiv : the Preprint Server for Biology, 2025

38234851 (PubMed )
Supplement: media-2.pdf

A Next-Generation BRAF Inhibitor Overcomes Resistance to BRAF Inhibition in Patients with BRAF-Mutant Cancers Using Pharmacokinetics-Informed Dose Escalation.

Yaeger R et al.

Cancer Discovery, 2024

38691346 (PubMed )
Supplement: cd-24-0024_table_s5_suppst5.pdf

Mutation profiling of circulating tumor DNA identifies distinct mutation patterns in non-Hodgkin lymphoma.

Fu H et al.

European Journal of Haematology, 2022

Enrichment of short mutant cell-free DNA fragments enhanced detection of pancreatic cancer.

Liu X et al.

Ebiomedicine, 2019

30857943 (PubMed )
Supplement: mmc3.xlsx › mutations_detected_in_cfDNA
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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."