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Gene | JAK2 |
Variant | G417P |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | JAK2 G417P lies within the atypical SH2 domain of the Jak2 protein (PMID: 26419724). G417P 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 G417P |
Transcript | NM_004972.4 |
gDNA | chr9:g.5066712_5066713delGGinsCC |
cDNA | c.1249_1250delGGinsCC |
Protein | p.G417P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322196.1 | chr9:g.5066712_5066713delGGinsCC | c.1249_1250delGGinsCC | p.G417P | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5066712_5066713delGGinsCC | c.1249_1250delGGinsCC | p.G417P | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5066712_5066713delGGinsCC | c.1249_1250delGGinsCC | p.G417P | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5066712_5066713delGGinsCC | c.1249_1250delGGinsCC | p.G417P | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5066712_5066713delGGinsCC | c.1249_1250delGGinsCC | p.G417P | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5066712_5066713delGGinsCC | c.1249_1250delGGinsCC | p.G417P | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5066712_5066713delGGinsCC | c.1249_1250delGGinsCC | p.G417P | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5066712_5066713delGGinsCC | c.1249_1250delGGinsCC | p.G417P | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5066712_5066713delGGinsCC | c.1249_1250delGGinsCC | p.G417P | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5066712_5066713delGGinsCC | c.1249_1250delGGinsCC | p.G417P | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5066712_5066713delGGinsCC | c.1249_1250delGGinsCC | p.G417P | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5066712_5066713delGGinsCC | c.1249_1250delGGinsCC | p.G417P | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK2 G417P | gain of function - predicted | JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK2 Inhibitor JAK2 Inhibitor - ATP competitive |