JAK1 A723D
Gene Variant Detail

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Gene JAK1
Variant A723D
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK1 A723D lies within the protein kinase domain 1 of the Jak1 protein (UniProt.org). A723D results in constitutive phosphorylation of Jak1 and Stat5 in cell culture (PMID: 21393331, PMID: 24735922).
Associated Drug Resistance
Category Variants Paths

JAK1 mutant JAK1 act mut JAK1 A723D

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Transcript NM_002227.4
gDNA chr1:g.64844837G>T
cDNA c.2168C>A
Protein p.A723D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047419674.1 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_001321852 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_001321855.1 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_001320923 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
XM_047419675.1 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_002227 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_001321856.2 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_001321855.2 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_001320923.2 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_001321852.1 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_001321856 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_001321856.1 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_001321854.2 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_001321853.2 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_001321855 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_001320923.1 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_002227.4 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_001321853.1 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_002227.3 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_001321852.2 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_001321854.1 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_001321854 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38
NM_001321853 chr1:g.64844837G>T c.2168C>A p.A723D RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK1 A723D cancer sensitive Ruxolitinib Preclinical Actionable In a preclinical study, transformed cells harboring JAK1 A723D were sensitive to ATP-competitive JAK inhibitors, such as Jakafi (Ruxolitinib) (PMID: 21393331). 21393331