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Gene JAK2
Variant R541_E543delinsK
Impact List indel
Protein Effect unknown
Gene Variant Descriptions JAK2 R541_E543delinsK results in a deletion of three amino acids of the Jak2 protein from amino acids 541 to 543, combined with the insertion of a lysine (K) at the same site (UniProt.org). R541_E543delinsK has been identified in the scientific literature (PMID: 26361084, PMID: 23810504, PMID: 17920755), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Mar 2024).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 exon12 JAK2 R541_E543delinsK

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Transcript NM_004972.4
gDNA chr9:g.5070033_5070038delGAAATG
cDNA c.1622_1627delGAAATG
Protein p.R541_E543delinsK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004972.3 chr9:g.5070033_5070038delGAAATG c.1622_1627delGAAATG p.R541_E543delinsK RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5070033_5070038delGAAATG c.1622_1627delGAAATG p.R541_E543delinsK RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070033_5070038delGAAATG c.1622_1627delGAAATG p.R541_E543delinsK RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5070033_5070038delGAAATG c.1622_1627delGAAATG p.R541_E543delinsK RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070033_5070038delGAAATG c.1622_1627delGAAATG p.R541_E543delinsK RefSeq GRCh38/hg38
NM_004972 chr9:g.5070033_5070038delGAAATG c.1622_1627delGAAATG p.R541_E543delinsK RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070033_5070038delGAAATG c.1622_1627delGAAATG p.R541_E543delinsK RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5070033_5070038delGAAATG c.1622_1627delGAAATG p.R541_E543delinsK RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5070033_5070038delGAAATG c.1622_1627delGAAATG p.R541_E543delinsK RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5070033_5070038delGAAATG c.1622_1627delGAAATG p.R541_E543delinsK RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070033_5070038delGAAATG c.1622_1627delGAAATG p.R541_E543delinsK RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5070033_5070038delGAAATG c.1622_1627delGAAATG p.R541_E543delinsK RefSeq GRCh38/hg38

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