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Gene ATRX
Variant E1547G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATRX E1547G does not lie within any known functional domains of the Atrx protein (UniProt.org). E1547G 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 E1547G

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Transcript NM_000489.6
gDNA chrX:g.77635974T>C
cDNA c.4640A>G
Protein p.E1547G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006724668 chrX:g.77635974T>C c.4640A>G p.E1547G RefSeq GRCh38/hg38
XM_017029601 chrX:g.77634673T>C c.4640A>G p.E1547G RefSeq GRCh38/hg38
XM_017029601.2 chrX:g.77634673T>C c.4640A>G p.E1547G RefSeq GRCh38/hg38
XM_047442191.1 chrX:g.77635974T>C c.4640A>G p.E1547G RefSeq GRCh38/hg38
XM_017029601.3 chrX:g.77634673T>C c.4640A>G p.E1547G RefSeq GRCh38/hg38
NM_000489 chrX:g.77635974T>C c.4640A>G p.E1547G RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77635974T>C c.4640A>G p.E1547G RefSeq GRCh38/hg38
XM_006724668.4 chrX:g.77635974T>C c.4640A>G p.E1547G RefSeq GRCh38/hg38
NM_000489.4 chrX:g.77635974T>C c.4640A>G p.E1547G RefSeq GRCh38/hg38
XM_006724668.3 chrX:g.77635974T>C c.4640A>G p.E1547G 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