ATRX R2079*
Gene Variant Detail

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Gene ATRX
Variant R2079*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions ATRX R2079* results in a premature truncation of the Atrx protein at amino acid 2079 of 2492 (UniProt.org). R2079* has been identified in sequencing studies (PMID: 29338072, PMID: 30733229, PMID: 31666247), 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 R2079*

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Transcript NM_000489.6
gDNA chrX:g.77574341G>A
cDNA c.6235C>T
Protein p.R2079*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017029601.2 chrX:g.77574251T>A c.6235A>T p.R2079* RefSeq GRCh38/hg38
NM_000489.4 chrX:g.77574341G>A c.6235C>T p.R2079* RefSeq GRCh38/hg38
XM_017029601.3 chrX:g.77574251T>A c.6235A>T p.R2079* RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77574341G>A c.6235C>T p.R2079* RefSeq GRCh38/hg38
NM_000489 chrX:g.77574341G>A c.6235C>T p.R2079* RefSeq GRCh38/hg38
XM_017029601 chrX:g.77574251T>A c.6235A>T p.R2079* 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries