Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


Gene Location [1]
Chromatin remodeling/DNA methylation
Variant Type
Substitution - Missense

TET2 c.5533-c.6005 Missense is present in 3.01% of AACR GENIE cases, with non-small cell lung carcinoma, leukemia, melanoma, colorectal adenocarcinoma, and uterine corpus neoplasm having the greatest prevalence [4].

Top Disease Cases with TET2 c.5533-c.6005 Missense


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. San Francisco CA: Github;2015.

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.