Gene Variant Detail

Gene JAK2
Variant R683*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK2 R683* results in a premature truncation of the Jak2 protein at amino acid 683 of 1182 (UniProt.org). Due to the loss of a portion of protein kinase domain 1 and all of protein kinase domain 2 (UniProt.org), R683* is predicted to lead to a loss of Jak2 protein function.
Associated Drug Resistance

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Transcript NM_004972
gDNA chr9:g.5078360A>T
cDNA c.2047A>T
Protein p.R683*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194 chr9:g.5078360A>T c.2047A>T p.R683* RefSeq GRCh38/hg38
NM_001322195 chr9:g.5078360A>T c.2047A>T p.R683* RefSeq GRCh38/hg38
NM_004972 chr9:g.5078360A>T c.2047A>T p.R683* RefSeq GRCh38/hg38
NM_001322196 chr9:g.5078360A>T c.2047A>T p.R683* RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
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Molecular Profile Protein Effect Treatment Approaches
JAK2 R683* loss of function - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References