JAK2 R683E
Gene Variant Detail

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Gene JAK2
Variant R683E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 R683E lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). R683E results in increased Jak2 and Stat1 phosphorylation in cell culture, increased STAT3-mediated transcription in a luciferase assay (PMID: 24918548), and increased Stat5 binding and enhanced enzyme kinetics as compared to wild-type Jak2 in in vitro assays (PMID: 23748007).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 R683E

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Transcript NM_004972.4
gDNA chr9:g.5078360_5078361delAGinsGA
cDNA c.2047_2048delAGinsGA
Protein p.R683E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195.2 chr9:g.5078360_5078361delAGinsGA c.2047_2048delAGinsGA p.R683E RefSeq GRCh38/hg38
NM_001322195 chr9:g.5078360_5078361delAGinsGA c.2047_2048delAGinsGA p.R683E RefSeq GRCh38/hg38
NM_001322196 chr9:g.5078360_5078361delAGinsGA c.2047_2048delAGinsGA p.R683E RefSeq GRCh38/hg38
NM_004972 chr9:g.5078360_5078361delAGinsGA c.2047_2048delAGinsGA p.R683E RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5078360_5078361delAGinsGA c.2047_2048delAGinsGA p.R683E RefSeq GRCh38/hg38
NM_001322194 chr9:g.5078360_5078361delAGinsGA c.2047_2048delAGinsGA p.R683E RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5078360_5078361delAGinsGA c.2047_2048delAGinsGA p.R683E RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5078360_5078361delAGinsGA c.2047_2048delAGinsGA p.R683E RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5078360_5078361delAGinsGA c.2047_2048delAGinsGA p.R683E RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5078360_5078361delAGinsGA c.2047_2048delAGinsGA p.R683E RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5078360_5078361delAGinsGA c.2047_2048delAGinsGA p.R683E RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5078360_5078361delAGinsGA c.2047_2048delAGinsGA p.R683E 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