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 | I535M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK3 I535M lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). I535M has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 I535M |
Transcript | NM_000215.4 |
gDNA | chr19:g.17838028A>C |
cDNA | c.1605T>G |
Protein | p.I535M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011527991.3 | chr19:g.17838028A>C | c.1605T>G | p.I535M | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17838028A>C | c.1605T>G | p.I535M | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17838028A>C | c.1605T>G | p.I535M | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17838028A>C | c.1605T>G | p.I535M | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17838028A>C | c.1605T>G | p.I535M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|