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 | D894G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 D894G lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). D894G has been identified in sequencing studies (PMID: 27561722, PMID: 30304655, PMID: 30181556), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 D894G |
Transcript | NM_004972.4 |
gDNA | chr9:g.5089783A>G |
cDNA | c.2681A>G |
Protein | p.D894G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322196.2 | chr9:g.5089783A>G | c.2681A>G | p.D894G | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5089783A>G | c.2681A>G | p.D894G | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5089783A>G | c.2681A>G | p.D894G | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5089783A>G | c.2681A>G | p.D894G | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5089783A>G | c.2681A>G | p.D894G | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5089783A>G | c.2681A>G | p.D894G | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5089783A>G | c.2681A>G | p.D894G | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5089783A>G | c.2681A>G | p.D894G | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5089783A>G | c.2681A>G | p.D894G | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5089783A>G | c.2681A>G | p.D894G | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5089783A>G | c.2681A>G | p.D894G | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5089783A>G | c.2681A>G | p.D894G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|