JAK3 A572V - Gene Variant Detail

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Gene JAK3
Variant A572V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK3 A572V lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). A572V confers a gain of function to the Jak3 protein, as demonstrated by increased Jak3 autophosphorylation (PMID: 29046866), constitutive phosphorylation of Jak3 and activation of downstream Stat5 (PMID: 22705984, PMID: 35622134), and leads to cytokine-independent proliferation of cultured cells (PMID: 22705984, PMID: 28284718).
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 act mut JAK3 A572V

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Transcript NM_000215.4
gDNA chr19:g.17837200G>A
cDNA c.1715C>T
Protein p.A572V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215 chr19:g.17837200G>A c.1715C>T p.A572V RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17837200G>A c.1715C>T p.A572V RefSeq GRCh38/hg38
XM_011527991.3 chr19:g.17837200G>A c.1715C>T p.A572V RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17837200G>A c.1715C>T p.A572V RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17837200G>A c.1715C>T p.A572V 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 A572V mature T-cell and NK-cell lymphoma sensitive Tofacitinib Preclinical Actionable In a preclinical study, Xeljanz (tofacitinib), a pan-JAK inhibitor, reduced cell viability and increased apoptosis in a JAK3 A572V mutant natural killer/T-cell lymphoma cell line (PMID: 22705984). 22705984
JAK3 A572V Advanced Solid Tumor sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, transformed human cells expressing JAK3 A572V in culture demonstrated decreased cell survival, increased G1 arrest, elevated apoptotic activity, and reduced phosphorylation of Stat5a when treated with Xeljanz (tofacitinib) (PMID: 21821710). 21821710
JAK3 A572V acute myeloid leukemia predicted - resistant Ilginatinib Preclinical - Cell culture Actionable In a preclinical study, an acute myeloid leukemia cell line harboring JAK3 A572V was insensitive to treatment with Ilginatinib (NS-018) in culture (PMID: 22829185). 22829185