JAK3 F666L
Gene Variant Detail

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Gene JAK3
Variant F666L
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK3 F666L lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). F666L (corresponding to F662L in mouse) results in cytokine-independent proliferation in cell culture (PMID: 25855603), and therefore, is predicted to lead to a gain of Jak3 protein function.
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 act mut JAK3 F666L

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Transcript NM_000215.4
gDNA chr19:g.17835134A>G
cDNA c.1996T>C
Protein p.F666L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215 chr19:g.17835134A>G c.1996T>C p.F666L RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17835134A>G c.1996T>C p.F666L RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17835134A>G c.1996T>C p.F666L RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17835134A>G c.1996T>C p.F666L RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References