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Gene | JAK2 |
Variant | Y613E |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK2 Y613E lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). Y613E results in constitutive activation of Jak2 and restores colony formation in cells lacking Jak2 in the absence of Epo, but does not restore colony formation in the absence of Epo/IL3 in culture (PMID: 18160720). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 Y613E |
Transcript | NM_004972.4 |
gDNA | chr9:g.5073758_5073760delTATinsGAG |
cDNA | c.1837_1839delTATinsGAG |
Protein | p.Y613E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322195.2 | chr9:g.5073758_5073760delTATinsGAG | c.1837_1839delTATinsGAG | p.Y613E | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5073758_5073760delTATinsGAG | c.1837_1839delTATinsGAG | p.Y613E | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5073758_5073760delTATinsGAG | c.1837_1839delTATinsGAG | p.Y613E | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5073758_5073760delTATinsGAG | c.1837_1839delTATinsGAG | p.Y613E | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5073758_5073760delTATinsGAG | c.1837_1839delTATinsGAG | p.Y613E | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5073758_5073760delTATinsGAG | c.1837_1839delTATinsGAG | p.Y613E | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5073758_5073760delTATinsGAG | c.1837_1839delTATinsGAG | p.Y613E | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5073758_5073760delTATinsGAG | c.1837_1839delTATinsGAG | p.Y613E | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5073758_5073760delTATinsGAG | c.1837_1839delTATinsGAG | p.Y613E | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5073758_5073760delTATinsGAG | c.1837_1839delTATinsGAG | p.Y613E | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5073758_5073760delTATinsGAG | c.1837_1839delTATinsGAG | p.Y613E | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5073758_5073760delTATinsGAG | c.1837_1839delTATinsGAG | p.Y613E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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