Associated Genetic Biomarkers

Overview

Gene Location [1]
2q31.2
Variant Type
Substitution - Missense
Affected Exon Number
2
Gene
NFE2L2
SIFT Prediction [3]
Deleterious

NFE2L2 W24C is present in 0.03% of AACR GENIE cases, with squamous cell lung carcinoma, infiltrating renal pelvis and ureter urothelial carcinoma, oropharyngeal squamous cell carcinoma, esophageal squamous cell carcinoma, and head and neck squamous cell carcinoma having the greatest prevalence [4].

Top Disease Cases with NFE2L2 W24C

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. 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 8. 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.