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Gene JAK2
Variant M929I
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK2 M929I is a gatekeeper mutation that lies within the protein kinase domain 2 of the Jak2 protein (PMID: 22916261, PMID: 23823659). M929I is predicted to confer a gain of function to the Jak2 protein as demonstrated by increased Jak2 and Stat5 phosphorylation (PMID: 22916261), and has also been described as a secondary drug resistance mutation in the context of other Jak2 activating mutations (PMID: 22916261, PMID: 23823659, PMID: 21926964).
Associated Drug Resistance Y

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Transcript NM_004972
gDNA chr9:g.5090471G>C
cDNA c.2787G>C
Protein p.M929I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194 chr9:g.5090471G>C c.2787G>C p.M929I RefSeq GRCh38/hg38
NM_001322195 chr9:g.5090471G>C c.2787G>C p.M929I RefSeq GRCh38/hg38
NM_001322196 chr9:g.5090471G>C c.2787G>C p.M929I RefSeq GRCh38/hg38
NM_004972 chr9:g.5090471G>C c.2787G>C p.M929I RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK2 V617F JAK2 M929I hematologic cancer predicted - sensitive Lestaurtinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 M929I double mutation were sensitive to treatment with Lestaurtinib (CEP-701) in culture, demonstrating growth inhibition (PMID: 21926964). 21926964
JAK2 V617F JAK2 M929I hematologic cancer resistant Ruxolitinib Preclinical Actionable In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 M929I double mutation demonstrated resistance to Jakafi (Ruxolitinib) in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 M929I hematologic cancer predicted - sensitive AZD1480 Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 M929I double mutation were sensitive to treatment with AZD1480 in culture, demonstrating growth inhibition (PMID: 21926964). 21926964
JAK2 V617F JAK2 M929I hematologic cancer predicted - sensitive Momelotinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 M929I double mutation were sensitive to treatment with Momelotinib in culture, demonstrating growth inhibition (PMID: 21926964). 21926964
JAK2 V617F JAK2 M929I hematologic cancer predicted - sensitive Fedratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 M929I double mutation were sensitive to treatment with Inrebic (fedratinib) in culture, demonstrating growth inhibition (PMID: 21926964). 21926964
ETV6 - JAK2 JAK2 M929I hematologic cancer resistant Pyridone 6 Preclinical Actionable In a preclinical study, immune cells expressing ETV6-JAK2 with the M929I mutation demonstrated resistance to Pyridone 6 (CMP6) in culture (PMID: 22916261). 22916261
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
JAK2 M929I gain of function - predicted JAK Inhibitor (Pan) JAK2 Inhibitor
JAK2 V617F JAK2 M929I
ETV6 - JAK2 JAK2 M929I