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| Gene | ABL1 |
| Variant | H295dup |
| Impact List | duplication |
| Protein Effect | unknown |
| Gene Variant Descriptions | ABL1 H295dup indicates the insertion of the duplicate amino acid, histidine (H)-295, in the protein kinase domain of the Abl1 protein (UniProt.org). H295dup has been identified in sequencing studies (PMID: 21442193), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Mar 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
ABL1 mutant ABL1 H295dup |
| Transcript | NM_005157.6 |
| gDNA | chr9:g.130872189_130872191 |
| cDNA | c.883_885 |
| Protein | p.H295 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005157.6 | chr9:g.130872189_130872191 | c.883_885 | p.H295 | RefSeq | GRCh38/hg38 |
| NM_005157.5 | chr9:g.130872190_130872191insTCA | c.884_885insTCA | p.H295dup | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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