Gene Variant Detail

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Gene JAK1
Variant K1026E
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK1 K1026E lies within protein kinase domain 2 of the Jak1 protein (UniProt.org). K1026E is transforming in culture and promotes tumor formation in mouse models, but results in variable phosphorylation levels of Jak1 and downstream signaling proteins in culture (PMID: 21393331, PMID: 20868368), and therefore, is predicted to lead to a gain of Jak1 protein function.
Associated Drug Resistance
Category Variants Paths

JAK1 mutant JAK1 act mut JAK1 K1026E

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Transcript NM_002227.4
gDNA chr1:g.64837996T>C
cDNA c.3076A>G
Protein p.K1026E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001321853 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
NM_001321852.1 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
NM_002227.4 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
NM_001321854.1 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
NM_001320923.1 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
NM_001321852.2 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
NM_001321855.2 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
NM_001321856.2 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
XM_047419674.1 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
NM_001321855 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
NM_002227.3 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
NM_001321855.1 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
NM_002227 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
NM_001321854 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
NM_001321856.1 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
NM_001320923 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
NM_001321852 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
NM_001321853.1 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
NM_001321853.2 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
NM_001320923.2 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
XM_047419675.1 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
NM_001321856 chr1:g.64837996T>C c.3076A>G p.K1026E RefSeq GRCh38/hg38
NM_001321854.2 chr1:g.64837996T>C c.3076A>G p.K1026E 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

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  • 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
JAK1 K1026E gain of function - predicted JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK1 Inhibitor JAK1 Inhibitor - ATP competitive