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Gene JAK1
Variant K527N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK1 K527N lies within the SH2 domain of the Jak1 protein (UniProt.org). K527N has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Jak1 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

JAK1 mutant JAK1 K527N

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Transcript NM_002227.4
gDNA chr1:g.64855576C>G
cDNA c.1581G>C
Protein p.K527N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001321855.1 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_002227 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_001321852.2 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_001321852 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_001321857 chr1:g.64855573C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_001320923.1 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
XM_047419676.1 chr1:g.64855573C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_001321855.2 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_001321854.2 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_001321854 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_001321853.2 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_001321857.2 chr1:g.64855573C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_001320923 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_001321856.2 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
XM_047419677.1 chr1:g.64855573C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
XM_047419675.1 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_001321856 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_001321855 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_001321857.1 chr1:g.64855573C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_002227.3 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_001321852.1 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_002227.4 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_001321856.1 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_001321854.1 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_001321853 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
XM_017001212 chr1:g.64855573C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_001320923.2 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
XM_047419674.1 chr1:g.64855576C>G c.1581G>C p.K527N RefSeq GRCh38/hg38
NM_001321853.1 chr1:g.64855576C>G c.1581G>C p.K527N 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...