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JAK3 V718L - Gene Variant Detail

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Gene JAK3
Variant V718L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK3 V718L lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). V718L has been identified in sequencing studies (PMID: 29844865, PMID: 27282351, PMID: 25017477), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2024).
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 V718L

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Transcript NM_000215.4
gDNA chr19:g.17834899C>G
cDNA c.2152G>C
Protein p.V718L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047438786.1 chr19:g.17834899C>G c.2152G>C p.V718L RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17834899C>G c.2152G>C p.V718L RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17834899C>G c.2152G>C p.V718L RefSeq GRCh38/hg38
NM_000215 chr19:g.17834899C>G c.2152G>C p.V718L 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")

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  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK3 V718L esophagus adenocarcinoma sensitive Pacritinib Preclinical - Patient cell culture Actionable In a preclinical study, Vonjo (pacritinib) inhibited viability of cells derived from the brain metastases of a patient with esophagus adenocarcinoma harboring JAK3 V718L in culture (PMID: 38985431). 38985431
JAK3 V718L esophagus adenocarcinoma sensitive Quizartinib Preclinical - Patient cell culture Actionable In a preclinical study, Vanflyta (quizartinib) inhibited viability of cells derived from the brain metastases of a patient with esophagus adenocarcinoma harboring JAK3 V718L in culture (PMID: 38985431). 38985431
JAK3 V718L esophagus adenocarcinoma sensitive Momelotinib Preclinical - Patient cell culture Actionable In a preclinical study, Momelotinib (CYT387) inhibited viability of cells derived from the brain metastases of a patient with esophagus adenocarcinoma harboring JAK3 V718L in culture (PMID: 38985431). 38985431
JAK3 V718L esophagus adenocarcinoma sensitive Fedratinib Preclinical - Patient cell culture Actionable In a preclinical study, Inrebic (fedratinib) inhibited viability of cells derived from the brain metastases of a patient with esophagus adenocarcinoma harboring JAK3 V718L in culture (PMID: 38985431). 38985431