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| Gene | ABL1 |
| Variant | Q252H |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ABL1 Q252H lies within the protein kinase domain of the Abl1 protein (UniProt.org). Q252H results in a loss of inhibitor binding and has also been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 16046538, PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
ABL1 mutant ABL1 Q252H |
| Transcript | NM_005157.6 |
| gDNA | chr9:g.130862969G>T |
| cDNA | c.756G>T |
| Protein | p.Q252H |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005157.5 | chr9:g.130862969G>T | c.756G>T | p.Q252H | RefSeq | GRCh38/hg38 |
| NM_005157 | chr9:g.130862969G>T | c.756G>T | p.Q252H | RefSeq | GRCh38/hg38 |
| NM_005157.6 | chr9:g.130862969G>T | c.756G>T | p.Q252H | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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