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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 |
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_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_001322196 | 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_001322194.2 | 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 |
NM_001322195 | 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_004972.4 | 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_004972.3 | chr9:g.5070033_5070038delGAAATG | c.1622_1627delGAAATG | p.R541_E543delinsK | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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