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JAK2 F537_K539delinsL - Gene Variant Detail

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Gene JAK2
Variant F537_K539delinsL
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions JAK2 F537_K539delinsL results in a deletion of three amino acids of the Jak2 protein from amino acids 537 to 539, combined with the insertion of a leucine (L) at the same site (UniProt.org). F537_K539delinsL confers a gain of function to the Jak2 protein as demonstrated by increased proliferation, Jak2 phosphorylation, and downstream Stat5 phosphorylation in cell culture (PMID: 17267906).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 F537_K539delinsL

JAK2 mutant JAK2 exon12 JAK2 F537_K539delinsL

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Transcript NM_004972.4
gDNA chr9:g.5070022_5070027delTCACAA
cDNA c.1611_1616delTCACAA
Protein p.F537_K539delinsL
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196.2 chr9:g.5070022_5070027delTCACAA c.1611_1616delTCACAA p.F537_K539delinsL RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070022_5070027delTCACAA c.1611_1616delTCACAA p.F537_K539delinsL RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5070022_5070027delTCACAA c.1611_1616delTCACAA p.F537_K539delinsL RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5070022_5070027delTCACAA c.1611_1616delTCACAA p.F537_K539delinsL RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070022_5070027delTCACAA c.1611_1616delTCACAA p.F537_K539delinsL RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5070022_5070027delTCACAA c.1611_1616delTCACAA p.F537_K539delinsL RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070022_5070027delTCACAA c.1611_1616delTCACAA p.F537_K539delinsL RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070022_5070027delTCACAA c.1611_1616delTCACAA p.F537_K539delinsL RefSeq GRCh38/hg38
NM_004972 chr9:g.5070022_5070027delTCACAA c.1611_1616delTCACAA p.F537_K539delinsL RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5070022_5070027delTCACAA c.1611_1616delTCACAA p.F537_K539delinsL RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5070022_5070027delTCACAA c.1611_1616delTCACAA p.F537_K539delinsL RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5070022_5070027delTCACAA c.1611_1616delTCACAA p.F537_K539delinsL RefSeq GRCh38/hg38

Filtering

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