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Gene | JAK3 |
Variant | I87T |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK3 I87T lies within the FERM domain of the Jak3 protein (UniProt.org). I87T confers a gain of function to Jak3, as demonstrated by increased Jak3 autophosphorylation (PMID: 29046866), constitutive phosphorylation of downstream Stat5, and is transforming in cell culture (PMID: 18397343). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 act mut JAK3 I87T |
Transcript | NM_000215.4 |
gDNA | chr19:g.17843825A>G |
cDNA | c.260T>C |
Protein | p.I87T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011527991.3 | chr19:g.17843825A>G | c.260T>C | p.I87T | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17843825A>G | c.260T>C | p.I87T | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17843825A>G | c.260T>C | p.I87T | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17843825A>G | c.260T>C | p.I87T | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17843825A>G | c.260T>C | p.I87T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
JAK3 I87T | Advanced Solid Tumor | sensitive | JANEX-1 | Preclinical - Cell culture | Actionable | In a preclinical study, JANEX-1 (WHI-P131) inhibited proliferation of transformed cells expressing JAK3 I87T in culture (PMID: 18397343). | 18397343 |