Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.M1T
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CDKN2A

NM_000077.5:p.M1T

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-supp11.xlsx › Appendix_1-table_11

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-11.pdf

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › PALB2

Genetic alterations that deregulate RB and PDGFRA signaling pathways drive tumor progression in IDH2-mutant astrocytoma.

Tateishi K et al.

Acta Neuropathologica Communications, 2023

38012788 (PubMed )
Supplement: 40478_2023_1683_MOESM2_ESM.xlsx › Supplementary_Table_S3

NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.

Ramakrishnan G et al.

Cell Reports, 2022

36351408 (PubMed )
Supplement: NIHMS1848910-supplement-2.xlsx › NF1-TP53-pi16INK4A-Smad4

Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation.

Çakır AY et al.

Turkish Journal of Medical Sciences, 2022

The LOVD3 platform: efficient genome-wide sharing of genetic variants.

Fokkema IFAC et al.

European Journal of Human Genetics : Ejhg, 2021

34521998 (PubMed )
Supplement: 41431_2021_959_MOESM4_ESM.pdf

Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation.

Kemps PG et al.

The Journal of Pathology. Clinical Research, 2021

32852896 (PubMed )
Supplement: CJP2-7-10-s001.pdf

KRAS mutation in secondary malignant histiocytosis arising from low grade follicular lymphoma.

Choi SM et al.

Diagnostic Pathology, 2018

Constitutive mitochondrial DNA copy number in peripheral blood of melanoma families with and without CDKN2A mutations.

Hyland PL et al.

Journal of Carcinogenesis & Mutagenesis, 2014

Dupuytren's disease and the risk of malignant neoplasms.

Zyluk A et al.

Hereditary Cancer in Clinical Practice, 2014

Abstracts of the 32nd european pancreatic club meeting

Folsch UR et al.

Digestion, 2000

Retention of the CDKN2A locus and low frequency of point mutations in primary and metastatic cutaneous malignant melanoma.

Ruiz A et al.

International Journal of Cancer, 1998

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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."