ATRX R2271Kfs*14
Gene Variant Detail

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Gene ATRX
Variant R2271Kfs*14
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions ATRX R2271Kfs*14 indicates a shift in the reading frame starting at amino acid 2271 and terminating 14 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). R2271Kfs*14 has been identified in sequencing studies (PMID: 22869205), 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 R2271Kfs*14

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Transcript NM_000489.6
gDNA chrX:g.77523292_77523295delTCTT
cDNA c.6812_6815delGAAA
Protein p.R2271Kfs*14
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000489 chrX:g.77523292_77523295delTCTT c.6812_6815delGAAA p.R2271Kfs*14 RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77523292_77523295delTCTT c.6812_6815delGAAA p.R2271Kfs*14 RefSeq GRCh38/hg38
NM_000489.4 chrX:g.77523292_77523295delTCTT c.6812_6815delGAAA p.R2271Kfs*14 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