Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.D156N
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CDKN2A

NM_000077.5:p.D156N

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-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

BRAF - a tumour-agnostic drug target with lineage-specific dependencies.

Hanrahan AJ et al.

Nature Reviews. Clinical Oncology, 2024

Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.

Yang X et al.

Bmc Medicine, 2024

38281914 (PubMed )
Supplement: 12916_2024_3257_MOESM1_ESM.xlsx › Table_S4

BRAF mutations and concurrent alterations in patients with soft tissue sarcoma.

Kobayashi H et al.

Genes, Chromosomes & Cancer, 2023

Circulating succinate-modifying metabolites accurately classify and reflect the status of fumarate hydratase-deficient renal cell carcinoma.

Zheng L et al.

The Journal of Clinical Investigation, 2023

37053010 (PubMed )
Supplement: jci-133-165028-s194.xlsx › FH-deficient_RCC_group

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

Mutational Profile and Clonal Evolution of Relapsed/Refractory Diffuse Large B-Cell Lymphoma.

Lee B et al.

Frontiers in Oncology, 2021

33777778 (PubMed )
Supplement: DataSheet_1.xlsx › Supplementary_Data_Set_1

Emerging BRAF Mutations in Cancer Progression and Their Possible Effects on Transcriptional Networks.

Śmiech M et al.

Genes, 2020

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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."