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Gene | JAK2 |
Variant | L583_A586delinsS |
Impact List | indel |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK2 L583_A586delinsS results in a deletion of four amino acids of the Jak2 protein from amino acids 583 to 586, combined with the insertion of a serine (S) at the same site (UniProt.org). L583_A586delinsS confers a gain of function to the Jak2 protein as indicated by ligand-independent cell growth and activation of Stat5, Erk1/2, and beta common chain-associated cytokine receptor signaling, and has been demonstrated to confer resistance to Jak2 inhibitors in cultured cells (PMID: 31697804). |
Associated Drug Resistance | Y |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 L583_A586delinsS |
Transcript | NM_004972.4 |
gDNA | chr9:g.5072597_5072608delinsAGC |
cDNA | c.1747_1758delinsAGC |
Protein | p.L583_A586delinsS |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004972.3 | chr9:g.5072597_5072608delinsAGC | c.1747_1758delinsAGC | p.L583_A586delinsS | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5072597_5072608delinsAGC | c.1747_1758delinsAGC | p.L583_A586delinsS | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5072597_5072608delinsAGC | c.1747_1758delinsAGC | p.L583_A586delinsS | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5072597_5072608delinsAGC | c.1747_1758delinsAGC | p.L583_A586delinsS | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5072597_5072608delinsAGC | c.1747_1758delinsAGC | p.L583_A586delinsS | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5072597_5072608delinsAGC | c.1747_1758delinsAGC | p.L583_A586delinsS | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5072597_5072608delinsAGC | c.1747_1758delinsAGC | p.L583_A586delinsS | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5072597_5072608delinsAGC | c.1747_1758delinsAGC | p.L583_A586delinsS | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5072597_5072608delinsAGC | c.1747_1758delinsAGC | p.L583_A586delinsS | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5072597_5072608delinsAGC | c.1747_1758delinsAGC | p.L583_A586delinsS | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5072597_5072608delinsAGC | c.1747_1758delinsAGC | p.L583_A586delinsS | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5072597_5072608delinsAGC | c.1747_1758delinsAGC | p.L583_A586delinsS | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
JAK2 mutant | essential thrombocythemia | not applicable | N/A | Guideline | Diagnostic | JAK2 mutations aid in the diagnosis of essential thrombocythemia (NCCN.org). | detail... |
JAK2 mutant | myelofibrosis | not applicable | N/A | Guideline | Diagnostic | JAK2 mutations aid in the diagnosis of primary myelofibrosis (NCCN.org). | detail... |
JAK2 mutant | childhood B-cell acute lymphoblastic leukemia | not applicable | N/A | Guideline | Prognostic | JAK2 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). | detail... |
JAK2 mutant | B-cell acute lymphoblastic leukemia | not applicable | N/A | Guideline | Prognostic | JAK2 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). | detail... |