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Gene JAK3
Variant E183G
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK3 E183G lies within the FERM domain of the Jak3 protein (UniProt.org). E183G confers a gain of function to the Jak3 protein as demonstrated by increased protein stability compared to wild-type, increased Stat5a phosphorylation, and transformation in cultured cells (PMID: 21821710).
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 act mut JAK3 E183G

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Transcript NM_000215.4
gDNA chr19:g.17843045T>C
cDNA c.548A>G
Protein p.E183G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047438786.1 chr19:g.17843045T>C c.548A>G p.E183G RefSeq GRCh38/hg38
NM_000215 chr19:g.17843045T>C c.548A>G p.E183G RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17843045T>C c.548A>G p.E183G RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17843045T>C c.548A>G p.E183G RefSeq GRCh38/hg38
XM_011527991.3 chr19:g.17843045T>C c.548A>G p.E183G RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • 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.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK3 E183G Advanced Solid Tumor sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, transformed human cells expressing JAK3 E183G in culture demonstrated decreased cell survival, increased G1 arrest, elevated apoptotic activity, and reduced phosphorylation of Stat5a when treated with Xeljanz (tofacitinib) (PMID: 21821710). 21821710