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| Gene | ATRX |
| Variant | L1612P |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATRX L1612P lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). L1612P 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 L1612P |
| Transcript | NM_000489.6 |
| gDNA | chrX:g.77633687A>G |
| cDNA | c.4835T>C |
| Protein | p.L1612P |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006724668.4 | chrX:g.77633687A>G | c.4835T>C | p.L1612P | RefSeq | GRCh38/hg38 |
| XM_005262155 | chrX:g.77633570A>G | c.4835T>C | p.L1612P | RefSeq | GRCh38/hg38 |
| NM_000489.6 | chrX:g.77633687A>G | c.4835T>C | p.L1612P | RefSeq | GRCh38/hg38 |
| XM_005262153.5 | chrX:g.77633684_77633685delTTinsCC | c.4834_4835delTTinsCC | p.L1612P | RefSeq | GRCh38/hg38 |
| XM_047442191.1 | chrX:g.77633687A>G | c.4835T>C | p.L1612P | RefSeq | GRCh38/hg38 |
| XM_005262153 | chrX:g.77633684_77633685delAAinsGG | c.4834_4835delTTinsCC | p.L1612P | RefSeq | GRCh38/hg38 |
| XM_017029606 | chrX:g.77633275A>G | c.4835T>C | p.L1612P | RefSeq | GRCh38/hg38 |
| XM_006724666.5 | chrX:g.77633570A>G | c.4835T>C | p.L1612P | RefSeq | GRCh38/hg38 |
| NM_000489 | chrX:g.77633687A>G | c.4835T>C | p.L1612P | RefSeq | GRCh38/hg38 |
| XM_006724666 | chrX:g.77633570A>G | c.4835T>C | p.L1612P | RefSeq | GRCh38/hg38 |
| NM_000489.4 | chrX:g.77633687A>G | c.4835T>C | p.L1612P | RefSeq | GRCh38/hg38 |
| XM_005262155.4 | chrX:g.77633570A>G | c.4835T>C | p.L1612P | RefSeq | GRCh38/hg38 |
| XM_006724668.3 | chrX:g.77633687A>G | c.4835T>C | p.L1612P | RefSeq | GRCh38/hg38 |
| XM_006724668 | chrX:g.77633687A>G | c.4835T>C | p.L1612P | RefSeq | GRCh38/hg38 |
| XM_017029606.2 | chrX:g.77633275A>G | c.4835T>C | p.L1612P | RefSeq | GRCh38/hg38 |
| XM_006724666.4 | chrX:g.77633570A>G | c.4835T>C | p.L1612P | RefSeq | GRCh38/hg38 |
| XM_005262153.6 | chrX:g.77633684_77633685delTTinsCC | c.4834_4835delTTinsCC | p.L1612P | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| ATRX mutant | high grade glioma | not applicable | N/A | Guideline | Diagnostic | ATRX mutations aid in the diagnosis of gliomas (NCCN.org). | detail... |