JAK1 R629_S632delinsSA
Gene Variant Detail

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Gene JAK1
Variant R629_S632delinsSA
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions JAK1 R629_S632delinsSA results in a deletion of four amino acids in the protein kinase domain 1 of the Jak1 protein from amino acids 629 to 632, combined with the insertion of a serine (S) and an alanine (A) at the same site (UniProt.org). R629_S632delinsSA confers a gain of function to the Jak1 protein as demonstrated by increased Stat3 and Stat5 phosphorylation in cultured cells, and is transforming in culture (PMID: 34496019).
Associated Drug Resistance
Category Variants Paths

JAK1 mutant JAK1 act mut JAK1 R629_S632delinsSA

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Transcript NM_002227.4
gDNA chr1:g.64847535_64847546delinsTGCGCT
cDNA c.1885_1896delinsAGCGCA
Protein p.R629_S632delinsSA
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001320923.2 chr1:g.64847535_64847546delinsTGCGCT c.1885_1896delinsAGCGCA p.R629_S632delinsSA RefSeq GRCh38/hg38
NM_001321853.1 chr1:g.64847535_64847546delinsTGCGCT c.1885_1896delinsAGCGCA p.R629_S632delinsSA RefSeq GRCh38/hg38
NM_001321853.2 chr1:g.64847535_64847546delinsTGCGCT c.1885_1896delinsAGCGCA p.R629_S632delinsSA RefSeq GRCh38/hg38
NM_001321855.2 chr1:g.64847535_64847546delinsTGCGCT c.1885_1896delinsAGCGCA p.R629_S632delinsSA RefSeq GRCh38/hg38
XM_047419674.1 chr1:g.64847535_64847546delinsTGCGCT c.1885_1896delinsAGCGCA p.R629_S632delinsSA RefSeq GRCh38/hg38
NM_001321854.1 chr1:g.64847535_64847546delinsTGCGCT c.1885_1896delinsAGCGCA p.R629_S632delinsSA RefSeq GRCh38/hg38
NM_001321856.2 chr1:g.64847535_64847546delinsTGCGCT c.1885_1896delinsAGCGCA p.R629_S632delinsSA RefSeq GRCh38/hg38
NM_002227.3 chr1:g.64847535_64847546delinsTGCGCT c.1885_1896delinsAGCGCA p.R629_S632delinsSA RefSeq GRCh38/hg38
NM_001321854.2 chr1:g.64847535_64847546delinsTGCGCT c.1885_1896delinsAGCGCA p.R629_S632delinsSA RefSeq GRCh38/hg38
NM_001321852.2 chr1:g.64847535_64847546delinsTGCGCT c.1885_1896delinsAGCGCA p.R629_S632delinsSA RefSeq GRCh38/hg38
NM_001320923.1 chr1:g.64847535_64847546delinsTGCGCT c.1885_1896delinsAGCGCA p.R629_S632delinsSA RefSeq GRCh38/hg38
NM_001321856.1 chr1:g.64847535_64847546delinsTGCGCT c.1885_1896delinsAGCGCA p.R629_S632delinsSA RefSeq GRCh38/hg38
NM_002227.4 chr1:g.64847535_64847546delinsTGCGCT c.1885_1896delinsAGCGCA p.R629_S632delinsSA RefSeq GRCh38/hg38
NM_001321855.1 chr1:g.64847535_64847546delinsTGCGCT c.1885_1896delinsAGCGCA p.R629_S632delinsSA RefSeq GRCh38/hg38
XM_047419675.1 chr1:g.64847535_64847546delinsTGCGCT c.1885_1896delinsAGCGCA p.R629_S632delinsSA RefSeq GRCh38/hg38
NM_001321852.1 chr1:g.64847535_64847546delinsTGCGCT c.1885_1896delinsAGCGCA p.R629_S632delinsSA 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK1 R629_S632delinsSA hematologic cancer sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, Xeljanz (tofacitinib) treatment resulted in decreased viability of transformed cells expressing JAK1 R629_S632delinsSA in culture (PMID: 34496019). 34496019
JAK1 R629_S632delinsSA hematologic cancer sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) treatment inhibited Stat5 signaling and decreased viability of transformed cells expressing JAK1 R629_S632delinsSA in culture (PMID: 34496019). 34496019
JAK1 R629_S632delinsSA hypereosinophilic syndrome predicted - resistant Ruxolitinib Preclinical - Patient cell culture Actionable In a preclinical study, blood and marrow cells derived from a patient with hypereosinophilia harboring JAK1 R629_S632delinsSA were resistant to Jakafi (ruxolitinib) treatment in culture (PMID: 34496019). 34496019
JAK1 R629_S632delinsSA hypereosinophilic syndrome predicted - sensitive Tofacitinib Preclinical - Patient cell culture Actionable In a preclinical study, Xeljanz (tofacitinib) treatment resulted in decreased viability of blood and marrow cells derived from a patient with hypereosinophilia harboring JAK1 R629_S632delinsSA in culture (PMID: 34496019). 34496019