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Gene | JAK2 |
Variant | R867Q |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK2 R867Q lies within the protein kinase domain 2 of the Jak2 protein (UniProt.org). R867Q results in constitutive activation of STAT3/5, AKT and ERK signaling, and increased proliferation in thrombopoietin receptor-expressing cells in culture (PMID: 24398328). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 R867Q |
Transcript | NM_004972.4 |
gDNA | chr9:g.5089702G>A |
cDNA | c.2600G>A |
Protein | p.R867Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322194.1 | chr9:g.5089702G>A | c.2600G>A | p.R867Q | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5089702G>A | c.2600G>A | p.R867Q | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5089702G>A | c.2600G>A | p.R867Q | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5089702G>A | c.2600G>A | p.R867Q | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5089702G>A | c.2600G>A | p.R867Q | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5089702G>A | c.2600G>A | p.R867Q | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5089702G>A | c.2600G>A | p.R867Q | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5089702G>A | c.2600G>A | p.R867Q | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5089702G>A | c.2600G>A | p.R867Q | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5089702G>A | c.2600G>A | p.R867Q | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5089702G>A | c.2600G>A | p.R867Q | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5089702G>A | c.2600G>A | p.R867Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
JAK2 R867Q | hematologic cancer | decreased response | Luminespib | Preclinical | Actionable | In a preclinical study, immune cells expressing JAK2 R867Q demonstrated decreased response to Luminespib (AUY922) in culture (PMID: 24398328). | 24398328 |
JAK2 R867Q | hematologic cancer | decreased response | Momelotinib | Preclinical | Actionable | In a preclinical study, immune cells expressing JAK2 R867Q demonstrated decreased response to Momelotinib (CYT387) in culture (PMID: 24398328). | 24398328 |
JAK2 R867Q | hematologic cancer | decreased response | Ruxolitinib | Preclinical | Actionable | In a preclinical study, immune cells expressing JAK2 R867Q demonstrated decreased response to Jakafi (ruxolitinib) in culture (PMID: 24398328). | 24398328 |
JAK2 R867Q | hematologic cancer | decreased response | Fedratinib | Preclinical - Cell culture | Actionable | In a preclinical study, immune cells expressing JAK2 R867Q demonstrated decreased response to Inrebic (fedratinib) in culture (PMID: 24398328). | 24398328 |
JAK2 R867Q | hematologic cancer | decreased response | AZ960 | Preclinical | Actionable | In a preclinical study, immune cells expressing JAK2 R867Q demonstrated decreased response to AZ960 in culture (PMID: 24398328). | 24398328 |