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 | T875N |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK2 T875N lies within the protein kinase domain 2 of the Jak2 protein (UniProt.org). T875N confers a gain of function to the Jak2 protein as demonstrated by increased Jak2 and Stat1, Stat3, and Stat5 phosphorylation (PMID: 19543316), and is transforming in cell culture (PMID: 21362419, PMID: 31299252). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 T875N |
Transcript | NM_004972.4 |
gDNA | chr9:g.5089726C>A |
cDNA | c.2624C>A |
Protein | p.T875N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004972.3 | chr9:g.5089726C>A | c.2624C>A | p.T875N | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5089726C>A | c.2624C>A | p.T875N | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5089726C>A | c.2624C>A | p.T875N | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5089726C>A | c.2624C>A | p.T875N | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5089726C>A | c.2624C>A | p.T875N | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5089726C>A | c.2624C>A | p.T875N | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5089726C>A | c.2624C>A | p.T875N | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5089726C>A | c.2624C>A | p.T875N | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5089726C>A | c.2624C>A | p.T875N | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5089726C>A | c.2624C>A | p.T875N | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5089726C>A | c.2624C>A | p.T875N | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5089726C>A | c.2624C>A | p.T875N | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|