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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_001321852.2 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_002227 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_001320923.2 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_001321856.1 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_001321855.2 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_001321856.2 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_001321855 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_001321852 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_001321852.1 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_001321856 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_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

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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
JAK1 A634D 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 A634D in culture (PMID: 34496019). 34496019
JAK1 A634D hematologic cancer sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK1 A634D were sensitive to treatment with Jakafi (ruxolitinib) in culture, demonstrating decreased cell proliferation (PMID: 31976485). 31976485
JAK1 A634D hematologic cancer sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK1 A634D were sensitive to treatment with Xeljanz (tofacitinib) in culture, demonstrating decreased cell proliferation (PMID: 31976485). 31976485
JAK1 A634D hematologic cancer sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, Xeljanz (tofacitinib) treatment resulted in decreased viability of transformed cells expressing JAK1 A634D in culture (PMID: 34496019). 34496019
JAK1 A634D hematologic cancer sensitive Baricitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK1 A634D were sensitive to treatment with Baricitinib (LY3009104) in culture, demonstrating decreased cell proliferation (PMID: 31976485). 31976485
JAK1 A634D hematologic cancer sensitive Decernotinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK1 A634D were sensitive to treatment with Decernotinib (VX-509) in culture, demonstrating decreased cell proliferation (PMID: 31976485). 31976485
JAK1 A634D hematologic cancer sensitive ASP015K Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK1 A634D were sensitive to treatment with ASP015K (peficitinib) in culture, demonstrating decreased cell proliferation (PMID: 31976485). 31976485
JAK1 A634D hematologic cancer sensitive Upadacitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK1 A634D were sensitive to treatment with Rinvoq (upadacitinib) in culture, demonstrating decreased cell proliferation (PMID: 31976485). 31976485