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Gene ATRX
Variant D217A
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATRX D217A lies within the ADD domain of the Atrx protein (UniProt.org). D217A demonstrates reduced binding to H3K9me3 peptides compared to wild-type Atrx in peptide arrays (PMID: 21421568), and therefore, is predicted to lead to a loss of Atrx protein function.
Associated Drug Resistance
Category Variants Paths

ATRX mutant ATRX inact mut ATRX D217A

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Transcript NM_000489.6
gDNA chrX:g.77684951T>G
cDNA c.650A>C
Protein p.D217A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000489 chrX:g.77684951T>G c.650A>C p.D217A RefSeq GRCh38/hg38
XM_006724668.3 chrX:g.77684951T>G c.650A>C p.D217A RefSeq GRCh38/hg38
NM_000489.6 chrX:g.77684951T>G c.650A>C p.D217A RefSeq GRCh38/hg38
XM_047442191.1 chrX:g.77684951T>G c.650A>C p.D217A RefSeq GRCh38/hg38
XM_006724668 chrX:g.77684951T>G c.650A>C p.D217A RefSeq GRCh38/hg38
XM_005262154.5 chrX:g.77684951T>G c.650A>C p.D217A RefSeq GRCh38/hg38
NM_000489.4 chrX:g.77684951T>G c.650A>C p.D217A RefSeq GRCh38/hg38
XM_005262154.6 chrX:g.77684951T>G c.650A>C p.D217A RefSeq GRCh38/hg38
XM_006724668.4 chrX:g.77684951T>G c.650A>C p.D217A RefSeq GRCh38/hg38
XM_005262154 chrX:g.77684951T>G c.650A>C p.D217A RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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