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Gene JAK1
Variant L710V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK1 L710V lies within protein kinase domain 1 of the Jak1 protein (UniProt.org). L710V results in constitutive activation of JAK-STAT signaling in cell culture when combined with STAT3 I498V (PMID: 26415585), but has not been individually characterized and therefore, its effect on Jak1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

JAK1 mutant JAK1 L710V

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Transcript NM_002227.4
gDNA chr1:g.64844877G>C
cDNA c.2128C>G
Protein p.L710V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001321853 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
NM_001321855 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
NM_001321855.1 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
XM_047419675.1 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
NM_001321852.1 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
NM_001321856 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
NM_001321853.2 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
NM_002227.4 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
NM_001321856.1 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
NM_001321854 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
NM_001320923 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
NM_001321853.1 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
NM_001321854.1 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
NM_001321855.2 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
NM_001320923.1 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
NM_001321854.2 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
XM_047419674.1 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
NM_001321852.2 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
NM_001320923.2 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
NM_001321856.2 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
NM_001321852 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
NM_002227 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38
NM_002227.3 chr1:g.64844877G>C c.2128C>G p.L710V RefSeq GRCh38/hg38

Filtering

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  • 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References