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| Gene | ABL1 |
| Variant | R239C |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ABL1 R239C does not lie within any known functional domains of the Abl1 protein (UniProt.org). R239C has been identified in sequencing studies (PMID: 29269125), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
ABL1 mutant ABL1 R239C |
| Transcript | NM_005157.6 |
| gDNA | chr9:g.130862928C>T |
| cDNA | c.715C>T |
| Protein | p.R239C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_007313.3 | chr9:g.130862871C>T | c.715C>T | p.R239C | RefSeq | GRCh38/hg38 |
| NM_005157 | chr9:g.130862928C>T | c.715C>T | p.R239C | RefSeq | GRCh38/hg38 |
| NM_005157.5 | chr9:g.130862928C>T | c.715C>T | p.R239C | RefSeq | GRCh38/hg38 |
| NM_005157.6 | chr9:g.130862928C>T | c.715C>T | p.R239C | RefSeq | GRCh38/hg38 |
| NM_007313 | chr9:g.130862871C>T | c.715C>T | p.R239C | RefSeq | GRCh38/hg38 |
| NM_007313.2 | chr9:g.130862871C>T | c.715C>T | p.R239C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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