Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.S152L
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CDKN2A

NM_000077.5:p.S152L

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

Utilizing cell-free DNA to predict risk of developing brain metastases in patients with metastatic breast cancer.

Vidula N et al.

Npj Breast Cancer, 2023

37076495 (PubMed )
Supplement: 41523_2023_528_MOESM1_ESM.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

Nucleotide variants and protein expression of TP53 in a Sri Lankan cohort of patients with head and neck cancer.

Manoharan V et al.

Molecular Medicine Reports, 2019

Oligodendroglial tumors frequently demonstrate hypermethylation of the CDKN2A (MTS1, p16INK4a), p14ARF, and CDKN2B (MTS2, p15INK4b) tumor suppressor genes.

Wolter M et al.

Journal of Neuropathology and Experimental Neurology, 2001

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