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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 |
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_000215.4 | chr19:g.17835109A>G | c.2021T>C | p.V674A | RefSeq | GRCh38/hg38 |
NM_000215 | 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 |
NM_000215.3 | chr19:g.17835109A>G | c.2021T>C | p.V674A | RefSeq | GRCh38/hg38 |
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 |