JAK2 Y931C - Gene Variant Detail

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Gene JAK2
Variant Y931C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 Y931C lies within the protein kinase domain 2 of the Jak2 protein (UniProt.org). Y931C results in increased phosphorylation of Jak2 and Stat5, is transforming in cell culture, and confers resistance to Jak inhibitors (PMID: 21393331, PMID: 26419724).
Associated Drug Resistance Y
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 Y931C

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Transcript NM_004972.4
gDNA chr9:g.5090476A>G
cDNA c.2792A>G
Protein p.Y931C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196.2 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322195 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322196 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322194 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_004972 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK2 V617F JAK2 Y931C cancer resistant Ruxolitinib Preclinical Actionable In a preclinical study, cells harboring the JAK2 V617F/Y931C double mutation displayed resistance to ATP-competetive JAK inhibitors, such as Jakafi (Ruxolitinib) (PMID: 21393331). 21393331
JAK2 V617F JAK2 Y931C Advanced Solid Tumor sensitive Fedratinib Preclinical - Cell culture Actionable In a preclinical study, Inrebic (fedratinib) treatment inhibited colony formation and proliferation of transformed cells expressing JAK2 V617F and Y931C in culture (PMID: 26419724). 26419724
JAK2 V617F JAK2 Y931C hematologic cancer resistant Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, a cell line expressing JAK2 V617F and Y931C was resistant to Jakafi (ruxolitinib) in culture (PMID: 39091915). 39091915
JAK2 V617F JAK2 Y931C hematologic cancer resistant Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 Y931C double mutation demonstrated resistance to Jakafi (Ruxolitinib) in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 Y931C hematologic cancer resistant Momelotinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 Y931C double mutation demonstrated resistance to Momelotinib in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 Y931C hematologic cancer resistant AZD1480 Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 Y931C double mutation demonstrated resistance to AZD1480 in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 Y931C hematologic cancer resistant Lestaurtinib Preclinical - Cell culture Actionable In a preclinical study, a cell line expressing JAK2 V617F and Y931C was resistant to Lestaurtinib (CEP-701) in culture (PMID: 39091915). 39091915
JAK2 V617F JAK2 Y931C hematologic cancer resistant Lestaurtinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 Y931C double mutation demonstrated resistance to Lestaurtinib (CEP-701) in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 Y931C hematologic cancer resistant Fedratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing the JAK2 V617F and JAK2 Y931C double mutation demonstrated resistance to Inrebic (fedratinib) in culture (PMID: 21926964). 21926964
JAK2 V617F JAK2 Y931C hematologic cancer resistant Fedratinib Preclinical - Cell culture Actionable In a preclinical study, Inrebic (fedratinib) inhibited Stat5 signaling and proliferation in a cell line expressing JAK2 V617F and Y931C in culture (PMID: 39091915). 39091915
JAK2 V617F JAK2 Y931C hematologic cancer decreased response CHZ868 Preclinical - Cell culture Actionable In a preclinical study, a cell line expressing JAK2 V617F and Y931C was less sensitive to CHZ868 treatment than cells expressing JAK2 V617F alone in culture (PMID: 39091915). 39091915
JAK2 V617F JAK2 Y931C hematologic cancer sensitive Tanespimycin Preclinical - Cell culture Actionable In a preclinical study, Tanespimycin (17-AAG) inhibited Stat5 signaling and proliferation in a cell line expressing JAK2 V617F and Y931C in culture (PMID: 39091915). 39091915
JAK2 V617F JAK2 Y931C hematologic cancer sensitive Geldanamycin Preclinical - Cell culture Actionable In a preclinical study, Geldanamycin inhibited Stat5 signaling and proliferation in a cell line expressing JAK2 V617F and Y931C in culture (PMID: 39091915). 39091915
JAK2 V617F JAK2 Y931C JAK2 S1025C Advanced Solid Tumor resistant Fedratinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK2 V617F, Y931C and S1025C demonstrated resistance to Inrebic (fedratinib) treatment in culture (PMID: 26419724). 26419724
JAK2 V617F JAK2 Y931C JAK2 Y1045W Advanced Solid Tumor resistant Fedratinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK2 V617F, Y931C and Y1045W demonstrated resistance to Inrebic (fedratinib) treatment in culture (PMID: 26419724). 26419724
JAK2 V617F JAK2 Y931C JAK2 F1061W Advanced Solid Tumor resistant Fedratinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK2 V617F, Y931C and F1061W demonstrated resistance to Inrebic (fedratinib) treatment in culture (PMID: 26419724). 26419724
JAK2 V617F JAK2 Y931C JAK2 V1075F Advanced Solid Tumor resistant Fedratinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK2 V617F, Y931C and V1075F demonstrated resistance to Inrebic (fedratinib) treatment in culture (PMID: 26419724). 26419724