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 | E846D |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK2 E846D lies within a linker region of the Jak2 protein (PMID: 29685781). E846D confers a gain of function to the Jak2 protein as demonstrated by prolonged Epo-induced Stat5 activation in an in-vitro assay and is transforming in cell culture (PMID: 27389715). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 E846D |
Transcript | NM_004972.4 |
gDNA | chr9:g.5081828G>C |
cDNA | c.2538G>C |
Protein | p.E846D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322195.2 | chr9:g.5081828G>C | c.2538G>C | p.E846D | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5081828G>C | c.2538G>C | p.E846D | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5081828G>C | c.2538G>C | p.E846D | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5081828G>C | c.2538G>C | p.E846D | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5081828G>C | c.2538G>C | p.E846D | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5081828G>C | c.2538G>C | p.E846D | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5081828G>C | c.2538G>C | p.E846D | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5081828G>C | c.2538G>C | p.E846D | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5081828G>C | c.2538G>C | p.E846D | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5081828G>C | c.2538G>C | p.E846D | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5081828G>C | c.2538G>C | p.E846D | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5081828G>C | c.2538G>C | p.E846D | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|