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Gene JAK3
Variant L1017M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK3 L1017M lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). L1017M results in transformation of cells in one study (PMID: 20400977) but does not transform cells in another study (PMID: 29046866) and therefore, its effect on Jak3 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 L1017M

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Transcript NM_000215.4
gDNA chr19:g.17830550G>T
cDNA c.3049C>A
Protein p.L1017M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215 chr19:g.17830550G>T c.3049C>A p.L1017M RefSeq GRCh38/hg38
XM_005259896 chr19:g.17831286G>T c.3049C>A p.L1017M RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17830550G>T c.3049C>A p.L1017M RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17830550G>T c.3049C>A p.L1017M RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17830550G>T c.3049C>A p.L1017M RefSeq GRCh38/hg38
XM_005259896.3 chr19:g.17831286G>T c.3049C>A p.L1017M 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References