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Gene JAK3
Variant R402H
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK3 R402H lies within the SH2 domain of the Jak3 protein (UniProt.org). R402H demonstrates altered subcellular localization and failure to properly localize the common gamma chain to the cell membrane in culture (PMID: 15143194), and therefore, is predicted to lead to a loss of Jak3 protein function.
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 inact mut JAK3 R402H

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Transcript NM_000215.4
gDNA chr19:g.17840279C>T
cDNA c.1205G>A
Protein p.R402H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011527991.3 chr19:g.17840279C>T c.1205G>A p.R402H RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17840279C>T c.1205G>A p.R402H RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17840279C>T c.1205G>A p.R402H RefSeq GRCh38/hg38
NM_000215 chr19:g.17840279C>T c.1205G>A p.R402H RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17840279C>T c.1205G>A p.R402H 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

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References