Starting April 21, you’ll be asked to log in or sign up for a free account after viewing 10 content pages each month.
Don’t worry—creating an account is quick and easy, and it comes with added benefits! Once logged in, you’ll not only continue accessing the content you already enjoy, but you’ll also unlock exclusive features like interactive donut plots for variant protein effects and variant impacts across the gene.
Stay tuned for these updates, and thank you for being part of our community!
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 | H538L |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK2 H538L does not lie within any known functional domains of the Jak2 protein (UniProt.org). H538L confers a gain of function to the Jak2 protein as demonstrated by increased Jak2 autophosphorylation and transformation of cells in culture (PMID: 19638629). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 H538L JAK2 mutant JAK2 exon12 JAK2 H538L |
Transcript | NM_004972.4 |
gDNA | chr9:g.5070024A>T |
cDNA | c.1613A>T |
Protein | p.H538L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |