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 | A593T |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | JAK3 A593T lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). A593T has not been biochemically characterized, but is not transforming in cell culture (PMID: 29046866), and therefore, is predicted to have no effect on Jak3 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 A593T |
Transcript | NM_000215.4 |
gDNA | chr19:g.17837138C>T |
cDNA | c.1777G>A |
Protein | p.A593T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047438786.1 | chr19:g.17837138C>T | c.1777G>A | p.A593T | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17837138C>T | c.1777G>A | p.A593T | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17837138C>T | c.1777G>A | p.A593T | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17837138C>T | c.1777G>A | p.A593T | RefSeq | GRCh38/hg38 |
XM_011527991.3 | chr19:g.17837138C>T | c.1777G>A | p.A593T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|