JAK2 R683T - Gene Variant Detail

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Gene JAK2
Variant R683T
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK2 R683T lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). R683E results in transformation of cells in culture (PMID: 26419724), and therefore, is predicted to lead to a gain of Jak2 protein function.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 R683T

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Transcript NM_004972.4
gDNA chr9:g.5078361G>C
cDNA c.2048G>C
Protein p.R683T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.1 chr9:g.5078361G>C c.2048G>C p.R683T RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5078361G>C c.2048G>C p.R683T RefSeq GRCh38/hg38
NM_004972 chr9:g.5078361G>C c.2048G>C p.R683T RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5078361G>C c.2048G>C p.R683T RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5078361G>C c.2048G>C p.R683T RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5078361G>C c.2048G>C p.R683T RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5078361G>C c.2048G>C p.R683T RefSeq GRCh38/hg38
NM_001322194 chr9:g.5078361G>C c.2048G>C p.R683T RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5078361G>C c.2048G>C p.R683T RefSeq GRCh38/hg38
NM_001322196 chr9:g.5078361G>C c.2048G>C p.R683T RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5078361G>C c.2048G>C p.R683T RefSeq GRCh38/hg38
NM_001322195 chr9:g.5078361G>C c.2048G>C p.R683T 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 )
  • 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries