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| Gene | JAK3 |
| Variant | P975L |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | JAK3 P975L lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). P975L has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Jun 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
JAK3 mutant JAK3 P975L |
| Transcript | NM_000215.4 |
| gDNA | chr19:g.17831282G>A |
| cDNA | c.2924C>T |
| Protein | p.P975L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |