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Gene | JAK3 |
Variant | R925S |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | JAK3 R925S lies within the protein kinase domain 2 of the Jak3 protein (UniProt.org). R925S demonstrates phosphorylation of Jak3 similar to wild-type protein and is not transforming in cell culture (PMID: 25193870). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 R925S |
Transcript | NM_000215.4 |
gDNA | chr19:g.17831706G>T |
cDNA | c.2773C>A |
Protein | p.R925S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |