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Gene JAK3
Variant V674A
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK3 V674A lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). V674A confers a gain of function on the Jak3 protein as demonstrated by increased kinase activity (PMID: 16790275, PMID: 20400977) and the ability to transform cells in culture (PMID: 16790275, PMID: 20400977, PMID: 35411095).
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 act mut JAK3 V674A

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Transcript NM_000215.4
gDNA chr19:g.17835109A>G
cDNA c.2021T>C
Protein p.V674A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215 chr19:g.17835109A>G c.2021T>C p.V674A RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17835109A>G c.2021T>C p.V674A RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17835109A>G c.2021T>C p.V674A RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17835109A>G c.2021T>C p.V674A 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 V674A Advanced Solid Tumor sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) inhibited Jak3-Stat signaling and cell proliferation in transformed cells over expressing JAK3 V674A in culture (PMID: 26446793). 26446793
JAK3 V674A 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 V674A in culture (PMID: 26446793). 26446793
JAK3 V674A Advanced Solid Tumor decreased response NIBR3049 Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing JAK3 V674A demonstrated reduced sensitivity to NIBR3049 in culture (PMID: 26446793). 26446793