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 | I645V |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | JAK2 I645V lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). I645V has been identified in the scientific literature (PMID: 19074595, PMID: 37834019), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Sep 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
JAK2 mutant JAK2 I645V |
| Transcript | NM_004972.4 |
| gDNA | chr9:g.5077521A>G |
| cDNA | c.1933A>G |
| Protein | p.I645V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001322196 | chr9:g.5077521A>G | c.1933A>G | p.I645V | RefSeq | GRCh38/hg38 |
| NM_001322195 | chr9:g.5077521A>G | c.1933A>G | p.I645V | RefSeq | GRCh38/hg38 |
| NM_004972 | chr9:g.5077521A>G | c.1933A>G | p.I645V | RefSeq | GRCh38/hg38 |
| NM_001322196.1 | chr9:g.5077521A>G | c.1933A>G | p.I645V | RefSeq | GRCh38/hg38 |
| NM_004972.3 | chr9:g.5077521A>G | c.1933A>G | p.I645V | RefSeq | GRCh38/hg38 |
| NM_001322195.1 | chr9:g.5077521A>G | c.1933A>G | p.I645V | RefSeq | GRCh38/hg38 |
| NM_004972.4 | chr9:g.5077521A>G | c.1933A>G | p.I645V | RefSeq | GRCh38/hg38 |
| NM_001322194.1 | chr9:g.5077521A>G | c.1933A>G | p.I645V | RefSeq | GRCh38/hg38 |
| NM_001322194 | chr9:g.5077521A>G | c.1933A>G | p.I645V | RefSeq | GRCh38/hg38 |
| NM_001322196.2 | chr9:g.5077521A>G | c.1933A>G | p.I645V | RefSeq | GRCh38/hg38 |
| NM_001322195.2 | chr9:g.5077521A>G | c.1933A>G | p.I645V | RefSeq | GRCh38/hg38 |
| NM_001322194.2 | chr9:g.5077521A>G | c.1933A>G | p.I645V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|