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|Protein Effect||loss of function|
|Gene Variant Descriptions||JAK2 inact mut indicates that this variant results in a loss of function of the Jak2 protein. However, the specific amino acid change has not been identified.|
|Associated Drug Resistance|
|Molecular Profile||Protein Effect||Treatment Approaches|
|JAK2 inact mut||loss of function|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|JAK2 inact mut||melanoma||predicted - resistant||Pembrolizumab||Case Reports/Case Series||Actionable||In a clinical study, a melanoma patient treated with Keytruda (pembrolizumab) initially demonstrated a partial response, however, post 734 days developed disease progression due to a splice site mutation in JAK2, which resulted in an intron inclusion and an early stop codon, leading to a loss of protein expression (PMID: 27433843).||27433843|