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Gene JAK2
Variant N533Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 N533Y lies within a linker region of the Jak2 protein (PMID: 29685781). N533Y has been identified in sequencing studies (PMID: 19074595, PMID: 36774789), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jan 2024).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 exon12 JAK2 N533Y

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Transcript NM_004972.4
gDNA chr9:g.5070008A>T
cDNA c.1597A>T
Protein p.N533Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004972.3 chr9:g.5070008A>T c.1597A>T p.N533Y RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070008A>T c.1597A>T p.N533Y RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5070008A>T c.1597A>T p.N533Y RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5070008A>T c.1597A>T p.N533Y RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5070008A>T c.1597A>T p.N533Y RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5070008A>T c.1597A>T p.N533Y RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070008A>T c.1597A>T p.N533Y RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070008A>T c.1597A>T p.N533Y RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5070008A>T c.1597A>T p.N533Y RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5070008A>T c.1597A>T p.N533Y RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070008A>T c.1597A>T p.N533Y RefSeq GRCh38/hg38
NM_004972 chr9:g.5070008A>T c.1597A>T p.N533Y RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries