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Gene | JAK3 |
Variant | V722I |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK3 V722I lies within the protein kinase domain 1 of the Jak3 protein (UniProt.org). V722I results in constitutive phosphorylation of Jak3, and activation of downstream signaling in cell culture and in patient samples, and is transforming in cell culture (PMID: 23689514, PMID: 16843266). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 act mut JAK3 V722I |
Transcript | NM_000215.4 |
gDNA | chr19:g.17834887C>T |
cDNA | c.2164G>A |
Protein | p.V722I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047438786.1 | chr19:g.17834887C>T | c.2164G>A | p.V722I | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17834887C>T | c.2164G>A | p.V722I | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17834887C>T | c.2164G>A | p.V722I | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17834887C>T | c.2164G>A | p.V722I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
JAK3 V722I | Advanced Solid Tumor | sensitive | Tofacitinib | Preclinical - Cell culture | Actionable | In a preclinical study, Xeljanz (tofacitinib) treatment converted cells expressing JAK3 V722I from factor-independent to factor-dependent growth in cell culture (PMID: 25146434). | 25146434 |