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Gene JAK3
Variant A573V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK3 A573V lies within the protein kinase domain 1 of the Jak3 protein (UniProt.org). A573V results in constitutive phosphorylation of Jak3, activation of downstream Stat5 and Erk, is transforming in cultured cells (PMID: 18755984, PMID: 29046866, PMID: 28284718), and induces T-cell acute lymphoblastic leukemia in mouse models (PMID: 25193870).
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 act mut JAK3 A573V

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Transcript NM_000215.4
gDNA chr19:g.17837197G>A
cDNA c.1718C>T
Protein p.A573V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215 chr19:g.17837197G>A c.1718C>T p.A573V RefSeq GRCh38/hg38
XM_011527991.3 chr19:g.17837197G>A c.1718C>T p.A573V RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17837197G>A c.1718C>T p.A573V RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17837197G>A c.1718C>T p.A573V RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17837197G>A c.1718C>T p.A573V 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
JAK3 A573V hematologic cancer sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, Xeljanz (tofacitinib, CP-690,550) decreased cell viability in transformed mouse Ba/F3 cells expressing Jak3 A573V (PMID: 29046866). 29046866