ATRX R246H
Gene Variant Detail

Request Content

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene ATRX
Variant R246H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATRX R246H lies within the ADD domain of the Atrx protein (UniProt.org). R246H has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
Associated Drug Resistance
Category Variants Paths

ATRX mutant ATRX R246H

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.

Transcript NM_000489.6
gDNA chrX:g.77684519C>T
cDNA c.737G>A
Protein p.R246H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005262154.6 chrX:g.77684519C>T c.737G>A p.R246H RefSeq GRCh38/hg38
NM_000489.4 chrX:g.77684519C>T c.737G>A p.R246H RefSeq GRCh38/hg38
XM_006724668.4 chrX:g.77684519C>T c.737G>A p.R246H RefSeq GRCh38/hg38
XM_006724668 chrX:g.77684519C>T c.737G>A p.R246H RefSeq GRCh38/hg38
NM_000489 chrX:g.77684519C>T c.737G>A p.R246H RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77684519C>T c.737G>A p.R246H RefSeq GRCh38/hg38
XM_047442191.1 chrX:g.77684519C>T c.737G>A p.R246H RefSeq GRCh38/hg38
XM_005262154.5 chrX:g.77684519C>T c.737G>A p.R246H RefSeq GRCh38/hg38
XM_005262154 chrX:g.77684519C>T c.737G>A p.R246H RefSeq GRCh38/hg38
XM_006724668.3 chrX:g.77684519C>T c.737G>A p.R246H 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...