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Gene JAK2
Variant Y931C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 Y931C lies within the protein kinase domain 2 of the Jak2 protein (UniProt.org). Y931C results in increased phosphorylation of Jak2 and Stat5, is transforming in cell culture, and confers resistance to Jak inhibitors (PMID: 21393331, PMID: 26419724).
Associated Drug Resistance Y
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 Y931C

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Transcript NM_004972.4
gDNA chr9:g.5090476A>G
cDNA c.2792A>G
Protein p.Y931C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196.2 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322195 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322196 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_004972 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322194 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5090476A>G c.2792A>G p.Y931C 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK2 Y931C cancer resistant Ruxolitinib Preclinical Actionable In a preclinical study, cells harboring JAK2 Y931C displayed resistance to ATP-competetive JAK inhibitors, such as Jakafi (Ruxolitinib) (PMID: 21393331). 21393331