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Gene JAK2
Variant L583_A586delinsP
Impact List indel
Protein Effect unknown
Gene Variant Descriptions JAK2 L583_A586delinsP results in a deletion of four amino acids of the Jak2 protein from amino acids 583 to 586, combined with the insertion of a proline (P) at the same site (UniProt.org). L583_A586delinsP has been identified in the scientific literature (PMID: 31697804), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 L583_A586delinsP

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Transcript NM_004972.4
gDNA chr9:g.5072598_5072606delTGGATAAAG
cDNA c.1748_1756delTGGATAAAG
Protein p.L583_A586delinsP
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196 chr9:g.5072598_5072606delTGGATAAAG c.1748_1756delTGGATAAAG p.L583_A586delinsP RefSeq GRCh38/hg38
NM_004972 chr9:g.5072598_5072606delTGGATAAAG c.1748_1756delTGGATAAAG p.L583_A586delinsP RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5072598_5072606delTGGATAAAG c.1748_1756delTGGATAAAG p.L583_A586delinsP RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5072598_5072606delTGGATAAAG c.1748_1756delTGGATAAAG p.L583_A586delinsP RefSeq GRCh38/hg38
NM_001322194 chr9:g.5072598_5072606delTGGATAAAG c.1748_1756delTGGATAAAG p.L583_A586delinsP RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5072598_5072606delTGGATAAAG c.1748_1756delTGGATAAAG p.L583_A586delinsP RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5072598_5072606delTGGATAAAG c.1748_1756delTGGATAAAG p.L583_A586delinsP RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5072598_5072606delTGGATAAAG c.1748_1756delTGGATAAAG p.L583_A586delinsP RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5072598_5072606delTGGATAAAG c.1748_1756delTGGATAAAG p.L583_A586delinsP RefSeq GRCh38/hg38
NM_001322195 chr9:g.5072598_5072606delTGGATAAAG c.1748_1756delTGGATAAAG p.L583_A586delinsP RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5072598_5072606delTGGATAAAG c.1748_1756delTGGATAAAG p.L583_A586delinsP RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5072598_5072606delTGGATAAAG c.1748_1756delTGGATAAAG p.L583_A586delinsP RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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