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 | JAK2 |
Variant | K539I |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK2 K539I does not lie within any known functional domains of the Jak2 protein (Uniprot.org). K539I confers a gain of function to the Jak2 protein as demonstrated by increased kinase activity, activation of Stat5, Erk, and Akt, and is transforming in cell culture (PMID: 19638629). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 K539I JAK2 mutant JAK2 exon12 JAK2 K539I |
Transcript | NM_004972.4 |
gDNA | chr9:g.5070027A>T |
cDNA | c.1616A>T |
Protein | p.K539I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322204.1 | chr9:g.5078376_5078377delAGinsTC | c.1616_1617delAGinsTC | p.K539I | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5070027A>T | c.1616A>T | p.K539I | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5070027A>T | c.1616A>T | p.K539I | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5070027A>T | c.1616A>T | p.K539I | RefSeq | GRCh38/hg38 |
NM_001322204.2 | chr9:g.5078376_5078377delAGinsTC | c.1616_1617delAGinsTC | p.K539I | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5070027A>T | c.1616A>T | p.K539I | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5070027A>T | c.1616A>T | p.K539I | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5070027A>T | c.1616A>T | p.K539I | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5070027A>T | c.1616A>T | p.K539I | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5070027A>T | c.1616A>T | p.K539I | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5070027A>T | c.1616A>T | p.K539I | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5070027A>T | c.1616A>T | p.K539I | RefSeq | GRCh38/hg38 |
NM_001322204 | chr9:g.5078376_5078377delAGinsTC | c.1616_1617delAGinsTC | p.K539I | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5070027A>T | c.1616A>T | p.K539I | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5070027A>T | c.1616A>T | p.K539I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|