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Gene | JAK3 |
Variant | C162Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK3 C162Y lies within the FERM domain of the Jak3 protein (UniProt.org). C162Y has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 C162Y |
Transcript | NM_000215.4 |
gDNA | chr19:g.17843108C>T |
cDNA | c.485G>A |
Protein | p.C162Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215.4 | chr19:g.17843108C>T | c.485G>A | p.C162Y | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17843108C>T | c.485G>A | p.C162Y | RefSeq | GRCh38/hg38 |
XM_011527991.3 | chr19:g.17843108C>T | c.485G>A | p.C162Y | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17843108C>T | c.485G>A | p.C162Y | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17843108C>T | c.485G>A | p.C162Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
JAK3 mutant | B-cell acute lymphoblastic leukemia | not applicable | N/A | Guideline | Prognostic | JAK3 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). | detail... |
JAK3 mutant | childhood B-cell acute lymphoblastic leukemia | not applicable | N/A | Guideline | Prognostic | JAK3 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). | detail... |