Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.T18P
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CDKN2A

NM_000077.5:p.T18P

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-fig2-data1.xlsx › Raw_data_in_Figure_2B

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

Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.

Kimura H et al.

Elife, 2022

Detection of somatic copy number deletion of the CDKN2A gene by quantitative multiplex PCR for clinical practice.

Tian Y et al.

Frontiers in Oncology, 2022

36531022 (PubMed )
Supplement: DataSheet_1.zip › Data_file-6_PTEN-TCGA-cancers_Conan_tableviewFri_Mar__5_07_39_00_2021.xlsx › Conan_tableviewFri_Mar__5_07_39

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

Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Chen F et al.

Nature Communications, 2017

28775315 (PubMed )
Supplement: 41467_2017_289_MOESM7_ESM.xlsx › mutation_data

BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.

Zhen DB et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

Genomic landscape and actionable mutations of brain metastases derived from non-small cell lung cancer: A systematic review.

Andrews LJ et al.

Neuro-oncology Advances, 0

38130901 (PubMed )
Supplement: vdad145_suppl_supplementary_data.xlsx › Individual_data
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