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Gene | JAK2 |
Variant | H110R |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | JAK2 H110R lies within the FERM domain of the Jak2 protein (PMID: 26419724). H110R results in transformation of cells in culture (PMID: 26419724), and therefore, is predicted to lead to a gain of Jak2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 H110R |
Transcript | NM_004972.4 |
gDNA | chr9:g.5029885A>G |
cDNA | c.329A>G |
Protein | p.H110R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322194 | chr9:g.5029885A>G | c.329A>G | p.H110R | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5029885A>G | c.329A>G | p.H110R | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5029885A>G | c.329A>G | p.H110R | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5029885A>G | c.329A>G | p.H110R | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5029885A>G | c.329A>G | p.H110R | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5029885A>G | c.329A>G | p.H110R | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5029885A>G | c.329A>G | p.H110R | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5029885A>G | c.329A>G | p.H110R | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5029885A>G | c.329A>G | p.H110R | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5029885A>G | c.329A>G | p.H110R | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5029885A>G | c.329A>G | p.H110R | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5029885A>G | c.329A>G | p.H110R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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