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Gene JAK3
Variant Q501H
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK3 Q501H does not lie within any known functional domains of the Jak3 protein (UniProt.org). Q501H confers a gain of function to Jak3, as indicated by phosphorylation of downstream Stat5, and is transforming in cell culture (PMID: 18397343, PMID: 20400977).
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 act mut JAK3 Q501H

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Transcript NM_000215.4
gDNA chr19:g.17838329C>A
cDNA c.1503G>T
Protein p.Q501H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047438786.1 chr19:g.17838329C>A c.1503G>T p.Q501H RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17838329C>A c.1503G>T p.Q501H RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17838329C>A c.1503G>T p.Q501H RefSeq GRCh38/hg38
XM_011527991.3 chr19:g.17838329C>A c.1503G>T p.Q501H RefSeq GRCh38/hg38
NM_000215 chr19:g.17838329C>A c.1503G>T p.Q501H 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 Protein Effect Treatment Approaches
JAK3 Q501H gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive