Gene Variant Detail

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 ATR
Variant E1229*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATR E1229* results in a premature truncation of the Atr protein at amino acid 1229 of 2644 (UniProt.org). Due to the loss of the PI3K/PI4K domain and the FATC domain (UniProt.org), E1229* is predicted to lead to a loss of Atr protein function.
Associated Drug Resistance
Category Variants Paths

ATR mutant ATR inact mut ATR E1229*

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_001184.4
gDNA chr3:g.142538522C>A
cDNA c.3685G>T
Protein p.E1229*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011512924.2 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
XM_011512924 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
NM_001184.4 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
XM_011512924.1 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
XM_047448362.1 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
XM_011512926 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
XM_047448361.1 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
XM_047448364.1 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
XM_047448363.1 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
NM_001184 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
NM_001184.3 chr3:g.142538522C>A c.3685G>T p.E1229* RefSeq GRCh38/hg38
XM_047448360.1 chr3:g.142538522C>A c.3685G>T p.E1229* 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
ATR inact mut prostate cancer sensitive Enzalutamide + Talazoparib FDA approved Actionable In a Phase III trial (TALAPRO-2) that supported FDA approval, Talzenna (talazoparib) plus Xtandi (enzalutamide) improved median radiographic progression-free survival compared to enzalutamide plus placebo (27.9 vs 16.4 mo, HR 0.46, p=0.0003) in patients with metastatic castration-resistant prostate cancer harboring deficient homologous recombination repair genes including ATR, with an HR of 0.66 (p=0.12) in patients with non-BRCA mutations treated with Talzenna (talazoparib) (PMID: 37285865; NCT03395197). detail... 37285865
ATR inact mut prostate cancer sensitive Enzalutamide + Talazoparib Guideline Actionable Talzenna (talazoparib) plus Xtandi (enzalutamide) is included in guidelines as systemic therapy for patients with metastatic castration-resistant prostate cancer harboring a pathogenic germline or somatic ATR mutation who have not been treated in the setting of castration-resistant prostate cancer (NCCN.org). detail...