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 | I540T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 I540T does not lie within any known functional domains of the Jak2 protein (UniProt.org). I540T has been identified in the scientific literature (PMID: 21497288, PMID: 37834019), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 exon12 JAK2 I540T |
Transcript | NM_004972.4 |
gDNA | chr9:g.5070030T>C |
cDNA | c.1619T>C |
Protein | p.I540T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |