ATRX E2246K
Gene Variant Detail

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Gene ATRX
Variant E2246K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATRX E2246K lies within the MECP2-interacting region of the Atrx protein (UniProt.org). E2246K has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
Associated Drug Resistance
Category Variants Paths

ATRX mutant ATRX E2246K

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Transcript NM_000489.6
gDNA chrX:g.77523365C>T
cDNA c.6736G>A
Protein p.E2246K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000489.6 chrX:g.77523365C>T c.6736G>A p.E2246K RefSeq GRCh38/hg38
NM_000489.4 chrX:g.77523365C>T c.6736G>A p.E2246K 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

  • 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATRX mutant high grade glioma not applicable N/A Guideline Diagnostic ATRX mutations aid in the diagnosis of gliomas (NCCN.org). detail...