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Gene JAK1
Variant R879H
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK1 R879H lies within the protein kinase domain 2 of the Jak1 protein (UniProt.org). R879H (corresponds to R878H in mouse) results in constitutive activation of Jak1 and phosphorylation of Stat proteins, leading to hyperproliferation and inflammation in the skin of transgenic mouse models harboring the corresponding mouse variant (PMID: 27111231), and demonstrates cell transformation in culture (PMID: 32296058).
Associated Drug Resistance
Category Variants Paths

JAK1 mutant JAK1 act mut JAK1 R879H

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Transcript NM_002227.4
gDNA chr1:g.64841258C>T
cDNA c.2636G>A
Protein p.R879H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001321854 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
NM_001321853.1 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
NM_001321856 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
NM_001321853.2 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
NM_001321852.1 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
NM_001321852 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
NM_001320923.2 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
NM_001321854.2 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
XM_047419675.1 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
XM_047419674.1 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
NM_001320923.1 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
NM_002227.4 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
NM_001321855.1 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
NM_001320923 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
NM_001321853 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
NM_002227 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
NM_001321856.1 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
NM_001321852.2 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
NM_001321854.1 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
NM_002227.3 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
NM_001321855.2 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
NM_001321855 chr1:g.64841258C>T c.2636G>A p.R879H RefSeq GRCh38/hg38
NM_001321856.2 chr1:g.64841258C>T c.2636G>A p.R879H 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