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Gene JAK1
Variant A634D
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK1 A634D lies within the protein kinase domain 1 of the Jak1 protein (UniProt.org). A634D results in constitutive activation of Stat3 and Stat5 signaling, and is transforming in cell culture (PMID: 18362173, PMID: 19139102, PMID: 21551237).
Associated Drug Resistance
Category Variants Paths

JAK1 mutant JAK1 act mut JAK1 A634D

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Transcript NM_002227.4
gDNA chr1:g.64846735G>T
cDNA c.1901C>A
Protein p.A634D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001321852.1 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
NM_001320923.1 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
NM_001321853.2 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
NM_001321854.1 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
NM_002227.4 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
XM_047419675.1 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
NM_001321854.2 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
NM_001321854 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
NM_001321852 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
NM_001321853 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
NM_001320923.2 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
NM_001321856.1 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
XM_047419674.1 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
NM_001321855.2 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
NM_001320923 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
NM_001321856.2 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
NM_001321856 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
NM_002227.3 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
NM_001321855.1 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
NM_002227 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
NM_001321855 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
NM_001321853.1 chr1:g.64846735G>T c.1901C>A p.A634D RefSeq GRCh38/hg38
NM_001321852.2 chr1:g.64846735G>T c.1901C>A p.A634D 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 )
  • 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK1 mutant childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK1 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
JAK1 mutant B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK1 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...