Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.R87Q
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CDKN2A

NM_000077.5:p.R87Q

Associated Papers

Identifying predictive markers of head and neck squamous cell carcinoma in an umbrella trial (KCSG HN 15-16 TRIUMPH trial).

Hwang S et al.

Esmo Open, 2025

40967067 (PubMed )
Supplement: mmc9.xlsx › Arm_____

Computational modeling of human genetic variants in mice.

Dong K et al.

Biorxiv : the Preprint Server for Biology, 2025

40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_9_SMARCA2_4_and_Paralogous_Library.xlsx › Sheet2_Double-hit_BE_Lib

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

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

Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.

Bhai P et al.

Frontiers in Oncology, 2023

37483495 (PubMed )
Supplement: Table_6.xlsx › Comprehensive_panel

Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.

Liu ZX et al.

Jama Network Open, 2022

36484990 (PubMed )
Supplement: jamanetwopen-e2245836-s002.xlsx › Table_S3

TERT gene rearrangement in chordomas and comparison to other TERT-rearranged solid tumors.

Yoon JY et al.

Cancer Genetics, 2021

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_11.XLSX › Sheet1

Quality assessment of a clinical next-generation sequencing melanoma panel within the Italian Melanoma Intergroup (IMI).

Vanni I et al.

Diagnostic Pathology, 2020

33317587 (PubMed )
Supplement: 13000_2020_1052_MOESM2_ESM.xlsx › Supplemental_Table_2

High Proportion of Potential Candidates for Immunotherapy in a Chilean Cohort of Gastric Cancer Patients: Results of the FORCE1 Study.

Cordova-Delgado M et al.

Cancers, 2019

31480291 (PubMed )
Supplement: cancers-11-01275-s001.zip › Supplementary_Tables_and_Figures.pdf

Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.

Toh MR et al.

Jnci Cancer Spectrum, 2018

31360874 (PubMed )
Supplement: pky054_supp.docx

Clonal architectures and driver mutations in metastatic melanomas.

Ding L et al.

Plos One, 2014

25393105 (PubMed )
Supplement: pone.0111153.s002.zip › File_S2 › Table_S10.xls › Supp_Table_10

Classifying variants of CDKN2A using computational and laboratory studies.

Miller PJ et al.

Human Mutation, 2011

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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."