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Gene | JAK2 |
Variant | N909K |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | JAK2 N909K lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). N909K results in increased Jak2, Stat5, Akt, and Erk phosphorylation, and has also been described as a secondary drug resistance mutation in the context of ETV6-JAK2 (PMID: 22916261), and therefore, is predicted to lead to a gain of Jak2 protein function. |
Associated Drug Resistance | Y |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 N909K |
Transcript | NM_004972.4 |
gDNA | chr9:g.5089829C>G |
cDNA | c.2727C>G |
Protein | p.N909K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322195 | chr9:g.5089829C>G | c.2727C>G | p.N909K | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5089829C>G | c.2727C>G | p.N909K | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5089829C>G | c.2727C>G | p.N909K | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5089829C>G | c.2727C>G | p.N909K | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5089829C>G | c.2727C>G | p.N909K | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5089829C>G | c.2727C>G | p.N909K | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5089829C>G | c.2727C>G | p.N909K | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5089829C>G | c.2727C>G | p.N909K | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5089829C>G | c.2727C>G | p.N909K | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5089829C>G | c.2727C>G | p.N909K | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5089829C>G | c.2727C>G | p.N909K | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5089829C>G | c.2727C>G | p.N909K | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK2 N909K | gain of function - predicted | JAK Inhibitor (Pan) JAK2 Inhibitor |