JAK2 H538_K539delinsL
Gene Variant Detail

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Gene JAK2
Variant H538_K539delinsL
Impact List indel
Protein Effect unknown
Gene Variant Descriptions JAK2 H538_K539delinsL results in a deletion of two amino acids of the Jak2 protein from amino acids 538 to 539, combined with the insertion of a leucine (L) at the same site (UniProt.org). H538_K539delinsL has been identified in the scientific literature (PMID: 32277273, PMID: 27410038, PMID: 22642932), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2025).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 exon12 JAK2 H538_K539delinsL

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Transcript NM_004972.4
gDNA chr9:g.5070023_5070028delinsCTT
cDNA c.1612_1617delinsCTT
Protein p.H538_K539delinsL
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195.1 chr9:g.5070023_5070028delinsCTT c.1612_1617delinsCTT p.H538_K539delinsL RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5070023_5070028delinsCTT c.1612_1617delinsCTT p.H538_K539delinsL RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070023_5070028delinsCTT c.1612_1617delinsCTT p.H538_K539delinsL RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070023_5070028delinsCTT c.1612_1617delinsCTT p.H538_K539delinsL RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070023_5070028delinsCTT c.1612_1617delinsCTT p.H538_K539delinsL RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5070023_5070028delinsCTT c.1612_1617delinsCTT p.H538_K539delinsL RefSeq GRCh38/hg38
NM_004972 chr9:g.5070023_5070028delinsCTT c.1612_1617delinsCTT p.H538_K539delinsL RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070023_5070028delinsCTT c.1612_1617delinsCTT p.H538_K539delinsL RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5070023_5070028delinsCTT c.1612_1617delinsCTT p.H538_K539delinsL RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5070023_5070028delinsCTT c.1612_1617delinsCTT p.H538_K539delinsL RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5070023_5070028delinsCTT c.1612_1617delinsCTT p.H538_K539delinsL RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5070023_5070028delinsCTT c.1612_1617delinsCTT p.H538_K539delinsL RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
JAK2 H538_K539delinsL unknown