Varaico: Literature-Extracted Genetic Variants

Gene:CDK4
Variant:p.R24C
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CDK4

NM_000075.4:p.R24C

Associated Papers

Altered expression and mutations in cell cycle genes CCND1, CDK4, CDKN2B and TP53 are associated with Pakistani breast cancer patients.

Tariq W et al.

Molecular Biology Reports, 2026

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

Subclinical fields of BRAF V600E-mutant melanocytes populate human skin and are enriched around melanoma and naevi.

Lee KJ et al.

The British Journal of Dermatology, 2026

41148046 (PubMed )
Supplement: ljaf412_supplementary_data.zip › Supporting_Information_Edited.docx

Prevalence of germline pathogenic variants in cancer predisposition genes in the Japanese population.

Yamaguchi T et al.

Japanese Journal of Clinical Oncology, 2025

41342546 (PubMed )
Supplement: table_s1_hyaf181.xlsx › Supplemental_Table_1

Leveraging oncology clinical case report data through the Cancer Knowledgebase (CKB).

Gokhale RH et al.

Personalized Medicine, 2025

Conjunctival melanoma genomic analysis reveals intermediate tumor mutation burden and genomic overlap with cutaneous melanoma.

Dimitriou F et al.

Npj Precision Oncology, 2025

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

Genetic Landscape of Familial Melanoma.

Scarano C et al.

Genes, 2025

Mapping chromatin interactions at melanoma susceptibility loci uncovers distant cis-regulatory gene targets.

Thakur R et al.

American Journal of Human Genetics, 2025

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

Analysis of Variants Induced by Combined Ex Vivo Irradiation and In Vivo Tumorigenesis Suggests a Role for the ZNF831 p.R1393Q Variant in Cutaneous Melanoma Development.

Usoltsev D et al.

The Journal of Investigative Dermatology, 2025

Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.

Fiasconaro CA et al.

Diseases (basel, Switzerland), 2025

Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.

Jha P et al.

The Journal of Liquid Biopsy, 2025

40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

Polygenic Risk Score Analysis of 37 SNPs Associated with Melanoma Risk in Colombian Population.

Tovar-Parra D et al.

International Journal of Molecular Sciences, 2025

40429816 (PubMed )
Supplement: ijms-26-04674-s001.zip › ijms-3524919-supplementary.xlsx › Table_S2

CDK4 loss-of-function mutations cause microcephaly and short stature.

Verdu Schlie A et al.

Genes & Development, 2025

The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.

Torrens L et al.

Nature Genetics, 2025

40164736 (PubMed )
Supplement: 41588_2025_2134_MOESM4_ESM.xlsx › Supplementary_Table_15

Cdk6's functions are critically regulated by its unique C-terminus.

Schirripa A et al.

Iscience, 2025

Establishment of a human ovarian endometrioid carcinoma cell line by constitutive expression of cyclin-dependent kinase 4, cyclin D1 and telomerase reverse transcriptase.

Hoshino H et al.

Human Cell, 2025

Cyclin-dependent protein kinases and cell cycle regulation in biology and disease.

Pellarin I et al.

Signal Transduction and Targeted Therapy, 2025

CDK4 inactivation inhibits apoptosis via mitochondria-ER contact remodeling in triple-negative breast cancer.

Ziegler DV et al.

Nature Communications, 2025

Genome sequencing enhances the diagnostic yield and expands the genetic landscape of male breast cancer.

Wen W et al.

Genetics in Medicine Open, 2025

39981113 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Pharmacological targeting of casein kinase 1δ suppresses oncogenic NRAS-driven melanoma.

Wen Y et al.

Nature Communications, 2024

39572526 (PubMed )
Supplement: 41467_2024_54140_MOESM1_ESM.pdf

Mapping chromatin interactions at melanoma susceptibility loci and cell-type specific dataset integration uncovers distant gene targets of cis-regulation.

Thakur R et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Aurora B inhibitors promote RB hypophosphorylation and senescence independent of p53-dependent CDK2/4 inhibition.

Vora S et al.

Cell Death & Disease, 2024

An attractor state zone precedes neural crest fate in melanoma initiation.

McConnell AM et al.

Biorxiv : the Preprint Server for Biology, 2024

Loss of p14 diminishes immunogenicity in melanoma via non-canonical Wnt signaling by reducing the peptide surface density.

Wohlfarth J et al.

Molecular Oncology, 2024

38807304 (PubMed )
Supplement: MOL2-18-2449-s003.xlsx › Established_Cell_Lines

Transcriptome-wide profiling for melanocytes derived from newborn and adult human epidermis with enhanced proliferation.

Orimoto A et al.

Cell Biology International, 2024

Impact of protein and small molecule interactions on kinase conformations.

Kugler V et al.

Elife, 2024

Multiple Endocrine Neoplasia Type 1 Regulates TGFβ-Mediated Suppression of Tumor Formation and Metastasis in Melanoma.

Boudreault J et al.

Cells, 2024

Transactivation of Met signaling by oncogenic Gnaq drives the evolution of melanoma in Hgf-Cdk4 mice.

Mengoni M et al.

Cancer Gene Therapy, 2024

Evaluation of ARID1A as a Potential Biomarker for Predicting Response to Immune Checkpoint Inhibitors in Patients with Endometrial Cancer.

Yamashita H et al.

Cancers, 2024

Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells.

Storey EC et al.

Neuromuscular Disorders : Nmd, 2024

Association between KRAS and PIK3CA Mutations and Progesterone Resistance in Endometriotic Epithelial Cell Line.

Kanno K et al.

Current Issues in Molecular Biology, 2024

A multiparameter liquid biopsy approach allows to track melanoma dynamics and identify early treatment resistance.

Scaini MC et al.

Npj Precision Oncology, 2024

38548846 (PubMed )
Supplement: 41698_2024_567_MOESM1_ESM.pdf

CDK6 inhibits de novo lipogenesis in white adipose tissues but not in the liver.

Hu AJ et al.

Nature Communications, 2024

38316780 (PubMed )
Supplement: 41467_2024_45294_MOESM2_ESM.pdf

Beyond cell cycle regulation: The pleiotropic function of CDK4 in cancer.

Ziegler DV et al.

Seminars in Cancer Biology, 2024

Loss of RAB25 Cooperates with Oncogenes in the Transformation of Human Mammary Epithelial Cells (HMECs) to Give Rise to Claudin-Low Tumors.

Joshi P et al.

Biomed Research International, 2024

Unveiling the genetic landscape of hereditary melanoma: From susceptibility to surveillance.

Zheng C et al.

Cancer Treatment and Research Communications, 2024

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Integrative analysis reveals early epigenetic alterations in high-grade serous ovarian carcinomas.

Machino H et al.

Experimental & Molecular Medicine, 2023

Noncanonical CDK4 signaling rescues diabetes in a mouse model by promoting β cell differentiation.

Stamateris RE et al.

The Journal of Clinical Investigation, 2023

Deep-penetrating-nevus-like melanoma arising in patients with familial adenomatous polyposis syndrome.

Russell-Goldman E et al.

Journal of Cutaneous Pathology, 2023

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

CDKN2A/CDK4 status in Brazilian patients meeting clinical criteria for hereditary melanoma: a cross-sectional descriptive trial.

Arnaut JRMB et al.

International Journal of Dermatology, 2023

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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."