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Gene | JAK3 |
Variant | L156P |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK3 L156P lies within the FERM domain of the Jak3 protein (UniProt.org). L156P results in a gain of function of the Jak3 protein as demonstrated by increased protein stability and transformation in cell culture (PMID: 21821710). |
Associated Drug Resistance |
Transcript | NM_000215.3 |
gDNA | chr19:g.17843126A>G |
cDNA | c.467T>C |
Protein | p.L156P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215 | chr19:g.17843126A>G | c.467T>C | p.L156P | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17843126A>G | c.467T>C | p.L156P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
JAK3 L156P | Advanced Solid Tumor | sensitive | Tofacitinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed human cells expressing JAK3 L156P in culture demonstrated decreased cell survival, increased G1 arrest, and reduced phosphorylation of Stat5a when treated with Xeljanz (tofacitinib) (PMID: 21821710). | 21821710 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK3 L156P | gain of function | JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive |