Gene Location [1]
Cell cycle control
Variant Type

Significance of CDKN2A Expression in Diseases

Oropharyngeal Squamous Cell Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Cervical Carcinoma +

Oropharyngeal Carcinoma +

Penile Carcinoma +

Anal Carcinoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

Cervical Squamous Cell Carcinoma +

Nasopharyngeal Squamous Cell Carcinoma +

Anal Squamous Cell Carcinoma +

Laryngeal Squamous Cell Carcinoma +

Malignant Solid Tumor +

Oral Cavity Squamous Cell Carcinoma +

Squamous Cell Carcinoma Of Unknown Primary +

Anal Intraepithelial Neoplasia +

Anal Neoplasm +

Cancer +

High Grade Cervical Intraepithelial Neoplasia +

High Grade Ovarian Serous Adenocarcinoma +

Hodgkin Lymphoma +

Hypopharyngeal Squamous Cell Carcinoma +

Nasal Cavity Squamous Cell Carcinoma +

Nasopharyngeal Carcinoma +

Nasopharyngeal Type Undifferentiated Carcinoma +

Non-Hodgkin Lymphoma +

Sinonasal Undifferentiated Carcinoma +

Soft Tissue Sarcoma +

Squamous Cell Carcinoma Of The Penis +

Tongue Squamous Cell Carcinoma +

Vaginal Squamous Cell Carcinoma +

Vulvar Neoplasm +

Vulvar Squamous Cell Carcinoma +

Vulvar Squamous Neoplasm +

Vulvar/Vaginal Squamous Cell Carcinoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.