JAK2 R971G
Gene Variant Detail

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Gene JAK2
Variant R971G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 R971G lies within the activation-loop of the Jak2 protein (PMID: 26419724). R971G confers resistance to some Jak inhibitors, and demonstrates reduced cell proliferation in combination with JAK2 V617F in culture (PMID: 26419724), but has not been individually characterized and therefore, its effect on Jak2 protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

JAK2 mutant JAK2 R971G

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Transcript NM_004972.4
gDNA chr9:g.5090763A>G
cDNA c.2911A>G
Protein p.R971G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196.1 chr9:g.5090763A>G c.2911A>G p.R971G RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5090763A>G c.2911A>G p.R971G RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5090763A>G c.2911A>G p.R971G RefSeq GRCh38/hg38
NM_001322194 chr9:g.5090763A>G c.2911A>G p.R971G RefSeq GRCh38/hg38
NM_001322195 chr9:g.5090763A>G c.2911A>G p.R971G RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5090763A>G c.2911A>G p.R971G RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5090763A>G c.2911A>G p.R971G RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5090763A>G c.2911A>G p.R971G RefSeq GRCh38/hg38
NM_001322196 chr9:g.5090763A>G c.2911A>G p.R971G RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5090763A>G c.2911A>G p.R971G RefSeq GRCh38/hg38
NM_004972 chr9:g.5090763A>G c.2911A>G p.R971G RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5090763A>G c.2911A>G p.R971G RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References