Gene Variant Detail

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Gene JAK2
Variant Y766E
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK2 Y766E lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). Y766E results in Epo-induced activation of Jak2, but reduced cytokine-induced colony formation compared to wild-type Jak2 in culture (PMID: 18160720), and therefore, is predicted to lead to a loss of Jak2 protein function.
Associated Drug Resistance

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Transcript NM_004972
gDNA chr9:g.5080545_5080547delTATinsGAG
cDNA c.2296_2298delTATinsGAG
Protein p.Y766E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194 chr9:g.5080545_5080547delTATinsGAG c.2296_2298delTATinsGAG p.Y766E RefSeq GRCh38/hg38
NM_001322195 chr9:g.5080545_5080547delTATinsGAG c.2296_2298delTATinsGAG p.Y766E RefSeq GRCh38/hg38
NM_004972 chr9:g.5080545_5080547delTATinsGAG c.2296_2298delTATinsGAG p.Y766E RefSeq GRCh38/hg38
NM_001322196 chr9:g.5080545_5080547delTATinsGAG c.2296_2298delTATinsGAG p.Y766E RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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
Molecular Profile Protein Effect Treatment Approaches
JAK2 Y766E loss of function - predicted