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 | R215Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 R215Q lies within the FERM domain of the Jak2 protein (UniProt.org). R215Q has been identified in sequencing studies (PMID: 22810696), 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 R215Q |
Transcript | NM_004972.4 |
gDNA | chr9:g.5054592G>A |
cDNA | c.644G>A |
Protein | p.R215Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004972 | chr9:g.5054592G>A | c.644G>A | p.R215Q | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5054592G>A | c.644G>A | p.R215Q | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5054592G>A | c.644G>A | p.R215Q | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5054592G>A | c.644G>A | p.R215Q | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5054592G>A | c.644G>A | p.R215Q | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5054592G>A | c.644G>A | p.R215Q | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5054592G>A | c.644G>A | p.R215Q | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5054592G>A | c.644G>A | p.R215Q | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5054592G>A | c.644G>A | p.R215Q | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5054592G>A | c.644G>A | p.R215Q | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5054592G>A | c.644G>A | p.R215Q | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5054592G>A | c.644G>A | p.R215Q | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|