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 | Y613_G614insTSY |
Impact List | insertion |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 Y613_G614insTSY results in the insertion of three amino acids in the protein kinase domain 1 of the Jak2 protein between amino acids 613 and 614 (UniProt.org). Y613_G614insTSY has not been characterized in the scientific literature and therefore, its effect on Jak2 protein function is unknown (PubMed, Jan 2025). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 Y613_G614insTSY |
Transcript | NM_004972.4 |
gDNA | chr9:g.5073760_5073761insACAAGCTAT |
cDNA | c.1839_1840insACAAGCTAT |
Protein | p.Y613_G614insTSY |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |