Associated Genetic Biomarkers
JAK2 R683T serves as an inclusion eligibility criterion in 1 clinical trial, of which 0 are open and 1 is closed. Of the trial that contains JAK2 R683T as an inclusion criterion, 1 is phase 1 (0 open).
Trials with JAK2 R683T in the inclusion eligibility criteria most commonly target myelodysplastic syndromes .
Significance of JAK2 R683T in Diseases
Myelodysplastic Syndromes +
JAK2 is mutated in 4.82% of myelodysplastic syndromes patients .
JAK2 R683T is an inclusion criterion in 1 clinical trial for myelodysplastic syndromes, of which 0 are open and 1 is closed. Of the trial that contains JAK2 R683T and myelodysplastic syndromes as inclusion criteria, 1 is phase 1 (0 open) .
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.