Gene Location [1]
JAK/STAT signaling
Variant Type
Substitution - Missense
Affected Exon Number
Protein Domain [2]
Protein kinase 1
SIFT Prediction [3]
ClinVar Prediction [3]

JAK2 V617F is present in 1.11% of AACR GENIE cases, with myeloproliferative neoplasm, polycythemia vera, acute myeloid leukemia, overt primary myelofibrosis, and essential thrombocythemia having the greatest prevalence [4].

Top Disease Cases with JAK2 V617F

Significance of JAK2 V617F in Diseases

Polycythemia Vera +

Essential Thrombocythemia +

Primary Myelofibrosis +

Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase +

Myelofibrosis Transformation In Essential Thrombocythemia +

Myelodysplastic Syndromes +

Malignant Solid Tumor +


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.