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Gene JAK3
Variant P132A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK3 P132A lies within the FERM domain of the Jak3 protein (UniProt.org). P132A demonstrates phosphorylation of Jak3, Stat5, and Erk to similar levels of wild-type Jak3, and is not transforming in culture, however, promotes tumor formation in mouse models (PMID: 21599579), and therefore, its effect on Jak3 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 P132A

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Transcript NM_000215.4
gDNA chr19:g.17843406G>C
cDNA c.394C>G
Protein p.P132A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215.3 chr19:g.17843406G>C c.394C>G p.P132A RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17843406G>C c.394C>G p.P132A RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17843406G>C c.394C>G p.P132A RefSeq GRCh38/hg38
XM_011527991.3 chr19:g.17843406G>C c.394C>G p.P132A RefSeq GRCh38/hg38
NM_000215 chr19:g.17843406G>C c.394C>G p.P132A 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