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 | JAK1 |
| Variant | P960X |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | JAK1 P960X indicates any JAK1 missense mutation that results in replacement of the proline (P) at amino acid 960 by a different amino acid. |
| Associated Drug Resistance | |
| Category Variants Paths |
JAK1 mutant JAK1 P960X |
| Transcript | NM_002227.4 |
| gDNA | chr1:g.64838552_64838554 |
| cDNA | c.2878_2880 |
| Protein | p.P960 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047419674.1 | chr1:g.64838552_64838554 | c.2878_2880 | p.P960 | RefSeq | GRCh38/hg38 |
| NM_001321856.2 | chr1:g.64838552_64838554 | c.2878_2880 | p.P960 | RefSeq | GRCh38/hg38 |
| XM_047419675.1 | chr1:g.64838552_64838554 | c.2878_2880 | p.P960 | RefSeq | GRCh38/hg38 |
| NM_001321852.2 | chr1:g.64838552_64838554 | c.2878_2880 | p.P960 | RefSeq | GRCh38/hg38 |
| NM_001321855.2 | chr1:g.64838552_64838554 | c.2878_2880 | p.P960 | RefSeq | GRCh38/hg38 |
| NM_001321853.2 | chr1:g.64838552_64838554 | c.2878_2880 | p.P960 | RefSeq | GRCh38/hg38 |
| NM_001321854.2 | chr1:g.64838552_64838554 | c.2878_2880 | p.P960 | RefSeq | GRCh38/hg38 |
| NM_001320923.2 | chr1:g.64838552_64838554 | c.2878_2880 | p.P960 | RefSeq | GRCh38/hg38 |
| NM_002227.4 | chr1:g.64838552_64838554 | c.2878_2880 | p.P960 | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|---|---|---|---|---|---|
| NCT05745714 | Phase Ib/II | Cyclophosphamide + Cytarabine + Dexamethasone + Ruxolitinib + Venetoclax | HEM-iSMART-C: Ruxolitinib + Venetoclax + Dexamethasone + Cyclophosphamide and Cytarabine in Pediatric Patients With Relapsed or Refractory Hematological Malignancies (HEM-iSMART C) | Recruiting | SWE | NOR | NLD | ITA | ISR | IRL | GBR | FRA | FIN | ESP | DNK | DEU | BEL | AUT | 0 |