JAK2 R564L
Gene Variant Detail

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Gene JAK2
Variant R564L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 R564L lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). R564L is predicted to disrupt Jak2 protein conformation by structural simulation (PMID: 19744331, PMID: 39657124), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Sep 2025).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 R564L

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Transcript NM_004972.4
gDNA chr9:g.5072541G>T
cDNA c.1691G>T
Protein p.R564L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004972.4 chr9:g.5072541G>T c.1691G>T p.R564L RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5072541G>T c.1691G>T p.R564L RefSeq GRCh38/hg38
NM_001322195 chr9:g.5072541G>T c.1691G>T p.R564L RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5072541G>T c.1691G>T p.R564L RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5072541G>T c.1691G>T p.R564L RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5072541G>T c.1691G>T p.R564L RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5072541G>T c.1691G>T p.R564L RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5072541G>T c.1691G>T p.R564L RefSeq GRCh38/hg38
NM_001322196 chr9:g.5072541G>T c.1691G>T p.R564L RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5072541G>T c.1691G>T p.R564L RefSeq GRCh38/hg38
NM_001322194 chr9:g.5072541G>T c.1691G>T p.R564L RefSeq GRCh38/hg38
NM_004972 chr9:g.5072541G>T c.1691G>T p.R564L RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References