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Gene JAK2
Variant S1025C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 S1025C lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). S1025C has been demonstrated to confer Jak2 inhibitor resistance in combination with V617F and Y931C in culture (PMID: 26419724), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Apr 2024).
Associated Drug Resistance Y
Category Variants Paths

JAK2 mutant JAK2 S1025C

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Transcript NM_004972.4
gDNA chr9:g.5123018_5123019delCAinsGT
cDNA c.3074_3075delCAinsGT
Protein p.S1025C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195.2 chr9:g.5123018_5123019delCAinsGT c.3074_3075delCAinsGT p.S1025C RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5123018_5123019delCAinsGT c.3074_3075delCAinsGT p.S1025C RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5123018_5123019delCAinsGT c.3074_3075delCAinsGT p.S1025C RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5123018_5123019delCAinsGT c.3074_3075delCAinsGT p.S1025C RefSeq GRCh38/hg38
NM_001322195 chr9:g.5123018_5123019delCAinsGT c.3074_3075delCAinsGT p.S1025C RefSeq GRCh38/hg38
NM_001322194 chr9:g.5123018_5123019delCAinsGT c.3074_3075delCAinsGT p.S1025C RefSeq GRCh38/hg38
NM_001322196 chr9:g.5123018_5123019delCAinsGT c.3074_3075delCAinsGT p.S1025C RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5123018_5123019delCAinsGT c.3074_3075delCAinsGT p.S1025C RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5123018_5123019delCAinsGT c.3074_3075delCAinsGT p.S1025C RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5123018_5123019delCAinsGT c.3074_3075delCAinsGT p.S1025C RefSeq GRCh38/hg38
NM_004972 chr9:g.5123018_5123019delCAinsGT c.3074_3075delCAinsGT p.S1025C RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5123018_5123019delCAinsGT c.3074_3075delCAinsGT p.S1025C 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK2 mutant essential thrombocythemia not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of essential thrombocythemia (NCCN.org). detail...
JAK2 mutant B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK2 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
JAK2 mutant myelofibrosis not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of primary myelofibrosis (NCCN.org). detail...
JAK2 mutant childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK2 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...