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 | Y813D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 Y813D lies within a linker region of the Jak2 protein (PMID: 29685781). Y813D has been identified in the scientific literature (PMID: 19643476, PMID: 37834019), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 Y813D |
Transcript | NM_004972.4 |
gDNA | chr9:g.5081727T>G |
cDNA | c.2437T>G |
Protein | p.Y813D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322194 | chr9:g.5081727T>G | c.2437T>G | p.Y813D | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5081727T>G | c.2437T>G | p.Y813D | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5081727T>G | c.2437T>G | p.Y813D | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5081727T>G | c.2437T>G | p.Y813D | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5081727T>G | c.2437T>G | p.Y813D | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5081727T>G | c.2437T>G | p.Y813D | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5081727T>G | c.2437T>G | p.Y813D | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5081727T>G | c.2437T>G | p.Y813D | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5081727T>G | c.2437T>G | p.Y813D | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5081727T>G | c.2437T>G | p.Y813D | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5081727T>G | c.2437T>G | p.Y813D | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5081727T>G | c.2437T>G | p.Y813D | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK2 Y813D | unknown |