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Gene | JAK2 |
Variant | Y790F |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | JAK2 Y790F lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). Y790F results in Epo-induced activation of Jak2 and cytokine-induced colony formation similar to wild-type Jak2 in culture (PMID: 18160720). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 Y790F |
Transcript | NM_004972.4 |
gDNA | chr9:g.5080618A>T |
cDNA | c.2369A>T |
Protein | p.Y790F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322195.2 | chr9:g.5080618A>T | c.2369A>T | p.Y790F | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5080618A>T | c.2369A>T | p.Y790F | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5080618A>T | c.2369A>T | p.Y790F | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5080618A>T | c.2369A>T | p.Y790F | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5080618A>T | c.2369A>T | p.Y790F | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5080618A>T | c.2369A>T | p.Y790F | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5080618A>T | c.2369A>T | p.Y790F | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5080618A>T | c.2369A>T | p.Y790F | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5080618A>T | c.2369A>T | p.Y790F | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5080618A>T | c.2369A>T | p.Y790F | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5080618A>T | c.2369A>T | p.Y790F | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5080618A>T | c.2369A>T | p.Y790F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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