Gene Variant Detail

Gene JAK3
Variant L857P
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK3 L857P lies within the protein kinase domain 2 of the Jak3 protein (UniProt.org). L857P results in cytokine receptor complex-independent activation of Jak3 and increased cell proliferation in culture (PMID: 26446793).
Associated Drug Resistance

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Transcript NM_000215
gDNA chr19:g.17832629A>G
cDNA c.2570T>C
Protein p.L857P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215 chr19:g.17832629A>G c.2570T>C p.L857P RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK3 L857P Advanced Solid Tumor sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, Xeljanz (tofacitinib) inhibited Jak3-Stat signaling and cell proliferation in transformed cells over expressing JAK3 L857P in culture (PMID: 26446793). 26446793
JAK3 L857P Advanced Solid Tumor sensitive NIBR3049 Preclinical - Cell culture Actionable In a preclinical study, NIBR3049 inhibited Jak3-Stat signaling and cell proliferation in transformed cells over expressing JAK3 L857P in culture (PMID: 26446793). 26446793
JAK3 L857P Advanced Solid Tumor decreased response Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing JAK3 L857P demonstrated reduced sensitivity to Jakafi (ruxolitinib) in culture (PMID: 26446793). 26446793
JAK3 L857P JAK3 Y100A Advanced Solid Tumor decreased response Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing both JAK3 L857P and JAK3 Y100A demonstrated reduced sensitivity to Jakafi (ruxolitinib) in culture (PMID: 26446793). 26446793
JAK3 L857P JAK3 Y100A Advanced Solid Tumor sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, Xeljanz (tofacitinib) inhibited Jak3-Stat signaling and cell proliferation in transformed cells over expressing both JAK3 L857P and Y100A in culture (PMID: 26446793). 26446793
JAK3 L857P JAK3 Y100A Advanced Solid Tumor sensitive NIBR3049 Preclinical - Cell culture Actionable In a preclinical study, NIBR3049 inhibited Jak3-Stat signaling and cell proliferation in transformed cells over expressing both JAK3 L857P and Y100A in culture (PMID: 26446793). 26446793