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Gene | JAK2 |
Variant | G935R |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | JAK2 G935R lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). G935R results in increased Jak2 and Stat5 phosphorylation, prevents apoptosis in the presence of a Jak inhibitor (PMID: 22916261), and has been described as a secondary drug resistance mutation in the context of other Jak2 activating mutations (PMID: 22271575, PMID: 22916261), and therefore, is predicted to lead to a gain of Jak2 protein function. |
Associated Drug Resistance | Y |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 G935R |
Transcript | NM_004972.4 |
gDNA | chr9:g.5090487G>A |
cDNA | c.2803G>A |
Protein | p.G935R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322194.2 | chr9:g.5090487G>A | c.2803G>A | p.G935R | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5090487G>A | c.2803G>A | p.G935R | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5090487G>A | c.2803G>A | p.G935R | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5090487G>A | c.2803G>A | p.G935R | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5090487G>A | c.2803G>A | p.G935R | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5090487G>A | c.2803G>A | p.G935R | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5090487G>A | c.2803G>A | p.G935R | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5090487G>A | c.2803G>A | p.G935R | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5090487G>A | c.2803G>A | p.G935R | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5090487G>A | c.2803G>A | p.G935R | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5090487G>A | c.2803G>A | p.G935R | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5090487G>A | c.2803G>A | p.G935R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
JAK2 V617F JAK2 G935R | hematologic cancer | resistant | Ruxolitinib | Preclinical - Cell culture | Actionable | In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 G935R double mutation demonstrated resistance to Jakafi (Ruxolitinib) in culture (PMID: 22271575). | 22271575 |
JAK2 V617F JAK2 G935R | hematologic cancer | resistant | NVP-BSK805 | Preclinical - Cell culture | Actionable | In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 G935R double mutation demonstrated resistance to NVP-BSK805 in culture (PMID: 22271575). | 22271575 |
JAK2 V617F JAK2 G935R | hematologic cancer | resistant | NVP-BVB808 | Preclinical | Actionable | In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 G935R double mutation demonstrated resistance to NVP-BVB808 in culture (PMID: 22271575). | 22271575 |
JAK2 V617F JAK2 G935R | hematologic cancer | resistant | Momelotinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing the JAK2 V617F and JAK2 G935R double mutation demonstrated resistance to Momelotinib in culture (PMID: 21926964). | 21926964 |
JAK2 V617F JAK2 G935R | hematologic cancer | resistant | AZD1480 | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing the JAK2 V617F and JAK2 G935R double mutation demonstrated resistance to AZD1480 in culture (PMID: 21926964). | 21926964 |
JAK2 V617F JAK2 G935R | hematologic cancer | resistant | Lestaurtinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing the JAK2 V617F and JAK2 G935R double mutation demonstrated resistance to Lestaurtinib (CEP-701) in culture (PMID: 21926964). | 21926964 |
JAK2 V617F JAK2 G935R | hematologic cancer | resistant | Fedratinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing the JAK2 V617F and JAK2 G935R double mutation demonstrated resistance to Inrebic (fedratinib) in culture (PMID: 21926964). | 21926964 |
JAK2 R683G JAK2 G935R | cancer | resistant | Ruxolitinib | Preclinical | Actionable | In a preclinical study, cells expressing the JAK2 R683G/G935R double mutation demonstrated resistance to Jakafi (Ruxolitinib) in culture (PMID: 22271575). | 22271575 |
JAK2 R683G JAK2 G935R | cancer | resistant | NVP-BSK805 | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing the JAK2 R683G/G935R double mutation demonstrated resistance to NVP-BSK805 in culture (PMID: 22271575). | 22271575 |
JAK2 R683G JAK2 G935R | cancer | resistant | NVP-BVB808 | Preclinical | Actionable | In a preclinical study, cells expressing the JAK2 R683G/G935R double mutation demonstrated resistance to NVP-BVB808 in culture (PMID: 22271575). | 22271575 |