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Gene JAK2
Variant R215Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 R215Q lies within the FERM domain of the Jak2 protein (UniProt.org). R215Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 R215Q

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Transcript NM_004972.4
gDNA chr9:g.5054592G>A
cDNA c.644G>A
Protein p.R215Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.1 chr9:g.5054592G>A c.644G>A p.R215Q RefSeq GRCh38/hg38
NM_001322196 chr9:g.5054592G>A c.644G>A p.R215Q RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5054592G>A c.644G>A p.R215Q RefSeq GRCh38/hg38
NM_001322195 chr9:g.5054592G>A c.644G>A p.R215Q RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5054592G>A c.644G>A p.R215Q RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5054592G>A c.644G>A p.R215Q RefSeq GRCh38/hg38
NM_001322194 chr9:g.5054592G>A c.644G>A p.R215Q RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5054592G>A c.644G>A p.R215Q RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5054592G>A c.644G>A p.R215Q RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5054592G>A c.644G>A p.R215Q RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5054592G>A c.644G>A p.R215Q RefSeq GRCh38/hg38
NM_004972 chr9:g.5054592G>A c.644G>A p.R215Q RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Sorting

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