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Gene JAK2
Variant I540N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 I540N does not lie within any known functional domains of the Jak2 protein (UniProt.org). I540N has not been characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 exon12 JAK2 I540N

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Transcript NM_004972.4
gDNA chr9:g.5070030T>A
cDNA c.1619T>A
Protein p.I540N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004972.3 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_004972 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5070030T>A c.1619T>A p.I540N RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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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  • 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 I540N unknown