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Gene JAK3
Variant I535F
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK3 I535F lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). I535F results in the disruption of ATP binding, and in the context of L857Q leads to reduced Stat5 activation (PMID: 30560087), 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 I535F

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Transcript NM_000215.4
gDNA chr19:g.17838030T>A
cDNA c.1603A>T
Protein p.I535F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047438786.1 chr19:g.17838030T>A c.1603A>T p.I535F RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17838030T>A c.1603A>T p.I535F RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17838030T>A c.1603A>T p.I535F RefSeq GRCh38/hg38
NM_000215 chr19:g.17838030T>A c.1603A>T p.I535F RefSeq GRCh38/hg38
XM_011527991.3 chr19:g.17838030T>A c.1603A>T p.I535F 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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Molecular Profile Protein Effect Treatment Approaches
JAK3 I535F loss of function - predicted