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Gene JAK3
Variant Q988P
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK3 Q988P lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). Q988P confers a gain of function to the Jak3 protein as demonstrated by constitutive JAK/STAT pathway activation (PMID: 37712558, PMID: 39033228), increased c-Myc and S6 phosphorylation and Pim1 expression (PMID: 39033228), and cytokine-independent growth in culture (PMID: 37712558).
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 act mut JAK3 Q988P

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Transcript NM_000215.4
gDNA chr19:g.17831243T>G
cDNA c.2963A>C
Protein p.Q988P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215.4 chr19:g.17831243T>G c.2963A>C p.Q988P RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17831243T>G c.2963A>C p.Q988P 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 Q988P hematologic cancer decreased response Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 Q988P were less sensitive to Jakafi (ruxolitinib) treatment compared to cells expressing JAK3 M511I in culture (PMID: 37712558). 37712558
JAK3 Q988P hematologic cancer sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, Xeljanz (tofacitinib) inhibited growth of transformed cells expressing JAK3 Q988P in culture (PMID: 37712558). 37712558
JAK3 Q988P hematologic cancer sensitive LGH447 Preclinical - Cell culture Actionable In a preclinical study, LGH447 inhibited viability and proliferation of transformed cells expressing JAK3 Q988P in culture (PMID: 39033228). 39033228