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Gene JAK2
Variant R683S
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 R683S lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). R683S confers a gain of function to the Jak2 protein as demonstrated by constitutive Jak2 phosphorylation (PMID: 18805579), Stat5 activation (PMID: 23748007), and increased cytokine-independent growth and proliferation in culture (PMID: 18805579, PMID: 19638629).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 R683S

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Transcript NM_004972.4
gDNA chr9:g.5078362A>C
cDNA c.2049A>C
Protein p.R683S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196 chr9:g.5078362A>C c.2049A>C p.R683S RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5078362A>C c.2049A>C p.R683S RefSeq GRCh38/hg38
NM_001322195 chr9:g.5078362A>C c.2049A>C p.R683S RefSeq GRCh38/hg38
NM_004972 chr9:g.5078362A>C c.2049A>C p.R683S RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5078362A>C c.2049A>C p.R683S RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5078362A>C c.2049A>C p.R683S RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5078362A>C c.2049A>C p.R683S RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5078362A>C c.2049A>C p.R683S RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5078362A>C c.2049A>C p.R683S RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5078362A>C c.2049A>C p.R683S RefSeq GRCh38/hg38
NM_001322194 chr9:g.5078362A>C c.2049A>C p.R683S RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5078362A>C c.2049A>C p.R683S RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
JAK2 R683S gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK2 Inhibitor JAK2 Inhibitor - ATP competitive