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| Gene | ATRX |
| Variant | L346P |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATRX L346P does not lie within any known functional domains of the Atrx protein (UniProt.org). L346P has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATRX mutant ATRX L346P |
| Transcript | NM_000489.6 |
| gDNA | chrX:g.77684219A>G |
| cDNA | c.1037T>C |
| Protein | p.L346P |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006724668.4 | chrX:g.77684219A>G | c.1037T>C | p.L346P | RefSeq | GRCh38/hg38 |
| XM_047442191.1 | chrX:g.77684219A>G | c.1037T>C | p.L346P | RefSeq | GRCh38/hg38 |
| XM_006724668.3 | chrX:g.77684219A>G | c.1037T>C | p.L346P | RefSeq | GRCh38/hg38 |
| NM_000489 | chrX:g.77684219A>G | c.1037T>C | p.L346P | RefSeq | GRCh38/hg38 |
| XM_005262154.6 | chrX:g.77684219A>G | c.1037T>C | p.L346P | RefSeq | GRCh38/hg38 |
| XM_006724668 | chrX:g.77684219A>G | c.1037T>C | p.L346P | RefSeq | GRCh38/hg38 |
| XM_005262154 | chrX:g.77684219A>G | c.1037T>C | p.L346P | RefSeq | GRCh38/hg38 |
| NM_000489.4 | chrX:g.77684219A>G | c.1037T>C | p.L346P | RefSeq | GRCh38/hg38 |
| XM_005262154.5 | chrX:g.77684219A>G | c.1037T>C | p.L346P | RefSeq | GRCh38/hg38 |
| NM_000489.6 | chrX:g.77684219A>G | c.1037T>C | p.L346P | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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