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 | H608G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK2 H608G lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). H608G disrupts Jak2 autoinhibition and leads to increased enzymatic activity and ATP and Stat5 affinity in in vitro assays, and increased cytokine-dependent and -independent Stat5 activation in culture (PMID: 36529225). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 H608G |
Transcript | NM_004972.4 |
gDNA | chr9:g.5073743_5073744delCAinsGG |
cDNA | c.1822_1823delCAinsGG |
Protein | p.H608G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322195.2 | chr9:g.5073743_5073744delCAinsGG | c.1822_1823delCAinsGG | p.H608G | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5073743_5073744delCAinsGG | c.1822_1823delCAinsGG | p.H608G | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5073743_5073744delCAinsGG | c.1822_1823delCAinsGG | p.H608G | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5073743_5073744delCAinsGG | c.1822_1823delCAinsGG | p.H608G | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK2 H608G | gain of function |