Gene Variant Detail

Gene JAK2
Variant E386*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK2 E386* results in a premature truncation of the Jak2 protein at amino acid 386 of 1132 (UniProt.org). Due to the loss of the protein kinase domains (UniProt.org), E386* is predicted to lead to a loss of Jak2 function.
Associated Drug Resistance

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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Transcript NM_004972
gDNA chr9:g.5064982G>T
cDNA c.1156G>T
Protein p.E386*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322198 chr9:g.5080620G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_001322199 chr9:g.5080620G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_001322195 chr9:g.5064982G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_004972 chr9:g.5064982G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_001322194 chr9:g.5064982G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_001322196 chr9:g.5064982G>T c.1156G>T p.E386* 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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
JAK2 E386* loss of function - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References