ATRX R808*
Gene Variant Detail

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Gene ATRX
Variant R808*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATRX R808* results in a premature truncation of the Atrx protein at amino acid 808 of 2492 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R808* is predicted to lead to a loss of Atrx protein function.
Associated Drug Resistance
Category Variants Paths

ATRX mutant ATRX inact mut ATRX R808*

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Transcript NM_000489.6
gDNA chrX:g.77682834G>A
cDNA c.2422C>T
Protein p.R808*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006724668.4 chrX:g.77682834G>A c.2422C>T p.R808* RefSeq GRCh38/hg38
NM_000489 chrX:g.77682834G>A c.2422C>T p.R808* RefSeq GRCh38/hg38
XM_006724668.3 chrX:g.77682834G>A c.2422C>T p.R808* RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77682834G>A c.2422C>T p.R808* RefSeq GRCh38/hg38
XM_017029606 chrX:g.77682603T>A c.2422A>T p.R808* RefSeq GRCh38/hg38
NM_000489.4 chrX:g.77682834G>A c.2422C>T p.R808* RefSeq GRCh38/hg38
XM_017029606.2 chrX:g.77682603T>A c.2422A>T p.R808* RefSeq GRCh38/hg38
XM_006724668 chrX:g.77682834G>A c.2422C>T p.R808* RefSeq GRCh38/hg38
XM_047442191.1 chrX:g.77682834G>A c.2422C>T p.R808* 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References