Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.L130P
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CDKN2A

NM_000077.5:p.L130P

Associated Papers

Characterization of aberrant splicing in pediatric central nervous system tumors reveals CLK1 as a candidate oncogenic dependency.

Naqvi AS et al.

Biorxiv : the Preprint Server for Biology, 2025

39149264 (PubMed )
Supplement: media-5.xlsx › E_sf_mutations

A comprehensive benchmark for multiple highly efficient base editors with broad targeting scope.

Wang X et al.

Biorxiv : the Preprint Server for Biology, 2025

39763781 (PubMed )
Supplement: media-3.xlsx › ABE_screen_library

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-supp9.xlsx › Appendix_1-table_9

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

The molecular tumor board as a step in cancer patient management: a southern Italian experience.

Tommasi S et al.

Frontiers in Medicine, 2024

39323465 (PubMed )
Supplement: Table_1.xlsx › Foglio1

Molecular characterisation of pancreatic ductal adenocarcinoma with NTRK fusions and review of the literature.

Allen MJ et al.

Journal of Clinical Pathology, 2023

NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.

Ramakrishnan G et al.

Cell Reports, 2022

36351408 (PubMed )
Supplement: NIHMS1848910-supplement-2.xlsx › NF1-TP53-pi16INK4A-Smad4

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.

Abdel-Wahab R et al.

Scientific Reports, 2020

33328484 (PubMed )
Supplement: 41598_2020_77939_MOESM1_ESM.xlsx › Sheet1

Incomplete inhibition of phosphorylation of 4E-BP1 as a mechanism of primary resistance to ATP-competitive mTOR inhibitors.

Ducker GS et al.

Oncogene, 2014

23542178 (PubMed )
Supplement: NIHMS550085-supplement-1.docx

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Mutational analysis of CDKN2A gene in a group of 390 larynx cancer patients.

Kiwerska K et al.

Molecular Biology Reports, 2010

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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."