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@jax.org
Gene | JAK2 |
Variant | Y931C |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK2 Y931C lies within the protein kinase domain 2 of the Jak2 protein (UniProt.org). Y931C results in increased phosphorylation of Jak2 and Stat5, is transforming in cell culture, and confers resistance to Jak inhibitors (PMID: 21393331, PMID: 26419724). |
Associated Drug Resistance | Y |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 Y931C |
Transcript | NM_004972.4 |
gDNA | chr9:g.5090476A>G |
cDNA | c.2792A>G |
Protein | p.Y931C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322195.1 | chr9:g.5090476A>G | c.2792A>G | p.Y931C | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5090476A>G | c.2792A>G | p.Y931C | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5090476A>G | c.2792A>G | p.Y931C | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5090476A>G | c.2792A>G | p.Y931C | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5090476A>G | c.2792A>G | p.Y931C | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5090476A>G | c.2792A>G | p.Y931C | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5090476A>G | c.2792A>G | p.Y931C | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5090476A>G | c.2792A>G | p.Y931C | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5090476A>G | c.2792A>G | p.Y931C | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5090476A>G | c.2792A>G | p.Y931C | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5090476A>G | c.2792A>G | p.Y931C | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5090476A>G | c.2792A>G | p.Y931C | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK2 Y931C | gain of function | JAK Inhibitor (Pan) JAK2 Inhibitor |
JAK2 V617F JAK2 Y931C | ||
JAK2 V617F JAK2 Y931C JAK2 S1025C | ||
JAK2 V617F JAK2 Y931C JAK2 Y1045W | ||
JAK2 V617F JAK2 Y931C JAK2 F1061W | ||
JAK2 V617F JAK2 Y931C JAK2 V1075F |