Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.D108G
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CDKN2A

NM_000077.5:p.D108G

Associated Papers

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

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

A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours.

Das K et al.

Scientific Reports, 2025

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

Comparative analysis of the mutational landscape and evolutionary patterns of pancreatic ductal adenocarcinoma metastases in the liver or peritoneum.

Yao G et al.

Heliyon, 2024

39170579 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Assessment of TP53 and CDKN2A status as predictive markers of malignant transformation of sinonasal inverted papilloma.

Kwon S et al.

Scientific Reports, 2024

38902320 (PubMed )
Supplement: 41598_2024_64901_MOESM1_ESM.xlsx › Dysplasia

TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.

Zhou Y et al.

Journal of Translational Medicine, 2023

38037073 (PubMed )
Supplement: 12967_2023_4742_MOESM1_ESM.xlsx › Sheet1

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

RBFOX2 modulates a metastatic signature of alternative splicing in pancreatic cancer.

Jbara A et al.

Nature, 2023

36949200 (PubMed )
Supplement: NIHMS1897967-supplement-1897967_Supp_table_1.xlsx › clin_data_PDA_Patients

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

The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.

Yang Y et al.

Bmc Cancer, 2022

35180847 (PubMed )
Supplement: 12885_2022_9279_MOESM3_ESM.xlsx › sheet1

Whole-exome Sequencing in Penile Squamous Cell Carcinoma Uncovers Novel Prognostic Categorization and Drug Targets Similar to Head and Neck Squamous Cell Carcinoma.

Chahoud J et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021

Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations.

Joshi A et al.

Oncotarget, 2021

33796225 (PubMed )
Supplement: oncotarget-12-578-s003.xlsx › Sequenom

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

Prospective evaluation of NGS-based liquid biopsy in untreated late stage non-squamous lung carcinoma in a single institution.

Heeke S et al.

Journal of Translational Medicine, 2020

32066459 (PubMed )
Supplement: 12967_2020_2259_MOESM2_ESM.xlsx › Liquid_Biopsy

Cross-cancer profiling of molecular alterations within the human autophagy interaction network.

Lebovitz CB et al.

Autophagy, 2015

26208877 (PubMed )
Supplement: kaup-11-09-1067362-s001.zip › 1067362_supplemental_files › 2014AUTO0485R1-s03.xlsx › LUSC-mutations

Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.

Tarpey PS et al.

Nature Genetics, 2013

Comprehensive genomic characterization of squamous cell lung cancers.

Unknown Author

Nature, 2012

22960745 (PubMed )
Supplement: NIHMS392594-supplement-2.zip › data.file.S7.1.p16.alterations.xlsx › Sheet1
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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."