Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.D146N
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CDKN2A

NM_000077.5:p.D146N

Associated Papers

Germline Pathogenic Variants in Patients with Pancreatic Ductal Adenocarcinoma and Extra-Pancreatic Malignancies: A Nationwide Database Analysis.

Kryklyva V et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

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-supp10.xlsx › Appendix_1-table_10

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

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

Analyses of clinicopathological, molecular, and prognostic associations of KRAS codon 61 and codon 146 mutations in colorectal cancer: cohort study and literature review.

Imamura Y et al.

Molecular Cancer, 2014

CDKN2A/B alterations impair prognosis in adult BCR-ABL1-positive acute lymphoblastic leukemia patients.

Iacobucci I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2011

Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus.

Hansson CM et al.

Bmc Genomics, 2007

Novel germline p16 mutation in familial malignant melanoma in southern Sweden.

Borg A et al.

Cancer Research, 1996

MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p.

Ueki K et al.

Human Molecular Genetics, 1994

Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas.

Rubio MP et al.

Cancer Research, 1994

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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."