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Gene | JAK3 |
Variant | R953* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK3 R953* results in a premature truncation of the Jak3 protein at amino acid 953 of 1124 (UniProt.org). R953* has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 R953* |
Transcript | NM_000215.4 |
gDNA | chr19:g.17831349G>A |
cDNA | c.2857C>T |
Protein | p.R953* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047438786.1 | chr19:g.17831349G>A | c.2857C>T | p.R953* | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17831349G>A | c.2857C>T | p.R953* | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17831349G>A | c.2857C>T | p.R953* | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17831349G>A | c.2857C>T | p.R953* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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