Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | JAK3 |
| Variant | D863E |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | JAK3 D863E lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). D863E has been identified in sequencing studies (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
JAK3 mutant JAK3 D863E |
| Transcript | NM_000215.4 |
| gDNA | chr19:g.17832610G>C |
| cDNA | c.2589C>G |
| Protein | p.D863E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000215 | chr19:g.17832610G>C | c.2589C>G | p.D863E | RefSeq | GRCh38/hg38 |
| NM_000215.3 | chr19:g.17832610G>C | c.2589C>G | p.D863E | RefSeq | GRCh38/hg38 |
| NM_000215.4 | chr19:g.17832610G>C | c.2589C>G | p.D863E | RefSeq | GRCh38/hg38 |
| XM_047438786.1 | chr19:g.17832610G>C | c.2589C>G | p.D863E | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|