Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.L130V
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CDKN2A

NM_000077.5:p.L130V

Associated Papers

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

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

Clinical implications of subclonal TP53 mutations in acute myeloid leukemia.

Prochazka KT et al.

Haematologica, 2019

Classifying variants of CDKN2A using computational and laboratory studies.

Miller PJ et al.

Human Mutation, 2011

Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation.

Jordan JJ et al.

Molecular Cancer Research : Mcr, 2010

Population-based prevalence of CDKN2A and CDK4 mutations in patients with multiple primary melanomas.

Helsing P et al.

Genes, Chromosomes & Cancer, 2008

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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."