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| Gene | ATRX |
| Variant | L192S |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATRX L192S lies within the ADD domain of the Atrx protein (UniProt.org). L192S has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATRX mutant ATRX L192S |
| Transcript | NM_000489.6 |
| gDNA | chrX:g.77688837A>G |
| cDNA | c.575T>C |
| Protein | p.L192S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_005262154.6 | chrX:g.77688837A>G | c.575T>C | p.L192S | RefSeq | GRCh38/hg38 |
| XM_005262154.5 | chrX:g.77688837A>G | c.575T>C | p.L192S | RefSeq | GRCh38/hg38 |
| NM_000489.4 | chrX:g.77688837A>G | c.575T>C | p.L192S | RefSeq | GRCh38/hg38 |
| XM_005262154 | chrX:g.77688837A>G | c.575T>C | p.L192S | RefSeq | GRCh38/hg38 |
| XM_006724668 | chrX:g.77688837A>G | c.575T>C | p.L192S | RefSeq | GRCh38/hg38 |
| NM_000489.6 | chrX:g.77688837A>G | c.575T>C | p.L192S | RefSeq | GRCh38/hg38 |
| XM_017029603 | chrX:g.77684513_77684514delAGinsCT | c.574_575delCTinsAG | p.L192S | RefSeq | GRCh38/hg38 |
| NM_000489 | chrX:g.77688837A>G | c.575T>C | p.L192S | RefSeq | GRCh38/hg38 |
| XM_006724668.3 | chrX:g.77688837A>G | c.575T>C | p.L192S | RefSeq | GRCh38/hg38 |
| XM_047442191.1 | chrX:g.77688837A>G | c.575T>C | p.L192S | RefSeq | GRCh38/hg38 |
| XM_006724668.4 | chrX:g.77688837A>G | c.575T>C | p.L192S | RefSeq | GRCh38/hg38 |
| XM_017029603.1 | chrX:g.77684513_77684514delCTinsAG | c.574_575delCTinsAG | p.L192S | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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