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JAK2 V366G - Gene Variant Detail

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Gene JAK2
Variant V366G
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK2 V366G lies within the FERM domain of the Jak2 protein (UniProt.org). V366G 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 V366G

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Transcript NM_004972.4
gDNA chr9:g.5064923T>G
cDNA c.1097T>G
Protein p.V366G
Source Database RefSeq
Genome Build GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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