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Gene JAK3
Variant M576L
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK3 M576L lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). M576L results in increased Jak3 autophosphorylation and is capable of phosphorylating Stat5 in culture (PMID: 29046866), 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 M576L

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Transcript NM_000215.4
gDNA chr19:g.17837189T>G
cDNA c.1726A>C
Protein p.M576L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215.4 chr19:g.17837189T>G c.1726A>C p.M576L RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17837189T>G c.1726A>C p.M576L RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17837189T>G c.1726A>C p.M576L RefSeq GRCh38/hg38
XM_011527991.3 chr19:g.17837189T>G c.1726A>C p.M576L RefSeq GRCh38/hg38
NM_000215 chr19:g.17837189T>G c.1726A>C p.M576L 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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  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries