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Gene JAK2
Variant R683H
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions JAK2 R683H lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). R683H results in enzyme kinetics and binding to Stat5 similar to wild-type Jak2 in in vitro assays (PMID: 23748007), and therefore, is predicted to have no effect on Jak2 protein function.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 R683H

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Transcript NM_004972.4
gDNA chr9:g.5078360_5078362delAGAinsCAT
cDNA c.2047_2049delAGAinsCAT
Protein p.R683H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195.2 chr9:g.5078360_5078362delAGAinsCAT c.2047_2049delAGAinsCAT p.R683H RefSeq GRCh38/hg38
NM_001322196 chr9:g.5078360_5078362delAGAinsCAT c.2047_2049delAGAinsCAT p.R683H RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5078360_5078362delAGAinsCAT c.2047_2049delAGAinsCAT p.R683H RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5078360_5078362delAGAinsCAT c.2047_2049delAGAinsCAT p.R683H RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5078360_5078362delAGAinsCAT c.2047_2049delAGAinsCAT p.R683H RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5078360_5078362delAGAinsCAT c.2047_2049delAGAinsCAT p.R683H RefSeq GRCh38/hg38
NM_001322194 chr9:g.5078360_5078362delAGAinsCAT c.2047_2049delAGAinsCAT p.R683H RefSeq GRCh38/hg38
NM_001322195 chr9:g.5078360_5078362delAGAinsCAT c.2047_2049delAGAinsCAT p.R683H RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5078360_5078362delAGAinsCAT c.2047_2049delAGAinsCAT p.R683H RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5078360_5078362delAGAinsCAT c.2047_2049delAGAinsCAT p.R683H RefSeq GRCh38/hg38
NM_004972 chr9:g.5078360_5078362delAGAinsCAT c.2047_2049delAGAinsCAT p.R683H RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5078360_5078362delAGAinsCAT c.2047_2049delAGAinsCAT p.R683H RefSeq GRCh38/hg38

Filtering

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  • 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