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Gene JAK1
Variant Q503*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK1 Q503* results in a premature truncation of the Jak1 protein at amino acid 503 of 1154 (UniProt.org). Q503* is associated with resistance to immunotherapy (PMID: 27433843), but due to the loss of the protein kinase domains (UniProt.org), is predicted to lead to a loss of Jak1 protein function.
Associated Drug Resistance Y
Category Variants Paths

JAK1 mutant JAK1 inact mut JAK1 Q503*

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Transcript NM_002227.4
gDNA chr1:g.64855650G>A
cDNA c.1507C>T
Protein p.Q503*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002227 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
NM_001321853.1 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
NM_001320923 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
NM_001321856.1 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
NM_001321854 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
NM_001321855 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
NM_001321852.1 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
NM_001321853.2 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
XM_047419674.1 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
NM_001321854.1 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
NM_001321855.1 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
NM_001320923.2 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
NM_001321856 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
NM_002227.3 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
NM_001321856.2 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
XM_047419675.1 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
NM_001321852 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
NM_001321852.2 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
NM_001321855.2 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
NM_001320923.1 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
NM_002227.4 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
NM_001321854.2 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38
NM_001321853 chr1:g.64855650G>A c.1507C>T p.Q503* RefSeq GRCh38/hg38

Filtering

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  • 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
JAK1 Q503* melanoma predicted - resistant Pembrolizumab Case Reports/Case Series Actionable In a clinical study, a melanoma patient treated with Keytruda (pembrolizumab) initially demonstrated a partial response, however, post 419 days developed disease progression likely due to the secondary resistance mutation, JAK1 Q503* (PMID: 27433843). 27433843