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 | Y766F |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | JAK2 Y766F lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). Y766F results in Epo-induced activation of Jak2 and cytokine-induced colony formation similar to wild-type Jak2 in culture (PMID: 18160720). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 Y766F |
Transcript | NM_004972.4 |
gDNA | chr9:g.5080546A>T |
cDNA | c.2297A>T |
Protein | p.Y766F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322196 | chr9:g.5080546A>T | c.2297A>T | p.Y766F | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5080546A>T | c.2297A>T | p.Y766F | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5080546A>T | c.2297A>T | p.Y766F | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5080546A>T | c.2297A>T | p.Y766F | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5080546A>T | c.2297A>T | p.Y766F | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5080546A>T | c.2297A>T | p.Y766F | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5080546A>T | c.2297A>T | p.Y766F | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5080546A>T | c.2297A>T | p.Y766F | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5080546A>T | c.2297A>T | p.Y766F | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5080546A>T | c.2297A>T | p.Y766F | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5080546A>T | c.2297A>T | p.Y766F | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5080546A>T | c.2297A>T | p.Y766F | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK2 Y766F | no effect |