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JAK2 T108A - Gene Variant Detail

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Gene JAK2
Variant T108A
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 T108A lies within the FERM domain of the Jak2 protein (UniProt.org). T108A is predicted to confer a gain of function to the Jak2 protein, as demonstrated by increased transcriptional activity of Stat1, 3, and 5, and ligand-dependent increased cell viability as compared to wild-type (PMID: 27647865).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 T108A

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Transcript NM_004972.4
gDNA chr9:g.5029878A>G
cDNA c.322A>G
Protein p.T108A
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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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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