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Gene | ATRX |
Variant | D1487N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATRX D1487N does not lie within any known functional domains of the Atrx protein (UniProt.org). D1487N 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 D1487N |
Transcript | NM_000489.6 |
gDNA | chrX:g.77652212C>T |
cDNA | c.4459G>A |
Protein | p.D1487N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000489.4 | chrX:g.77652212C>T | c.4459G>A | p.D1487N | RefSeq | GRCh38/hg38 |
XM_006724668.4 | chrX:g.77652212C>T | c.4459G>A | p.D1487N | RefSeq | GRCh38/hg38 |
NM_138270.3 | chrX:g.77636041C>T | c.4459G>A | p.D1487N | RefSeq | GRCh38/hg38 |
NM_000489.6 | chrX:g.77652212C>T | c.4459G>A | p.D1487N | RefSeq | GRCh38/hg38 |
NM_000489 | chrX:g.77652212C>T | c.4459G>A | p.D1487N | RefSeq | GRCh38/hg38 |
XM_047442191.1 | chrX:g.77652212C>T | c.4459G>A | p.D1487N | RefSeq | GRCh38/hg38 |
XM_006724668 | chrX:g.77652212C>T | c.4459G>A | p.D1487N | RefSeq | GRCh38/hg38 |
XM_006724668.3 | chrX:g.77652212C>T | c.4459G>A | p.D1487N | RefSeq | GRCh38/hg38 |
XM_005262156 | chrX:g.77635990C>T | c.4459G>A | p.D1487N | RefSeq | GRCh38/hg38 |
NM_138270 | chrX:g.77636041C>T | c.4459G>A | p.D1487N | RefSeq | GRCh38/hg38 |
XM_005262156.5 | chrX:g.77635990C>T | c.4459G>A | p.D1487N | RefSeq | GRCh38/hg38 |
XM_005262156.4 | chrX:g.77635990C>T | c.4459G>A | p.D1487N | RefSeq | GRCh38/hg38 |
NM_138270.5 | chrX:g.77636041C>T | c.4459G>A | p.D1487N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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