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Gene | JAK3 |
Variant | L1091P |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | JAK3 L1091P lies within the protein kinase domain 2 of the Jak3 protein (UniProt.org). L1091P does not support cytokine-independent growth in culture (PMID: 32639993), and therefore, is predicted to have no effect on Jak3 protein function. |
Associated Drug Resistance |
Transcript | NM_000215.3 |
gDNA | chr19:g.17826846A>G |
cDNA | c.3272T>C |
Protein | p.L1091P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215 | chr19:g.17826846A>G | c.3272T>C | p.L1091P | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17826846A>G | c.3272T>C | p.L1091P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK3 L1091P | no effect - predicted |