Gene Variant Detail

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Gene ATRX
Variant I1784S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATRX I1784S does not lie within any known functional domains of the Atrx protein (UniProt.org). I1784S has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2024).
Associated Drug Resistance
Category Variants Paths

ATRX mutant ATRX I1784S

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Transcript NM_000489.6
gDNA chrX:g.77618903A>C
cDNA c.5351T>G
Protein p.I1784S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006724668 chrX:g.77618903A>C c.5351T>G p.I1784S RefSeq GRCh38/hg38
XM_006724668.4 chrX:g.77618903A>C c.5351T>G p.I1784S RefSeq GRCh38/hg38
NM_000489 chrX:g.77618903A>C c.5351T>G p.I1784S RefSeq GRCh38/hg38
XM_006724668.3 chrX:g.77618903A>C c.5351T>G p.I1784S RefSeq GRCh38/hg38
XM_047442191.1 chrX:g.77618903A>C c.5351T>G p.I1784S RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77618903A>C c.5351T>G p.I1784S RefSeq GRCh38/hg38
NM_000489.4 chrX:g.77618903A>C c.5351T>G p.I1784S RefSeq GRCh38/hg38

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