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| Gene | ABL1 |
| Variant | G250R |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ABL1 G250R lies within the protein kinase domain of the Abl1 protein (UniProt.org). G250R has been identified in the scientific literature (PMID: 17982022, PMID: 28801986), 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 G250R |
| Transcript | NM_005157.6 |
| gDNA | chr9:g.130862961G>A |
| cDNA | c.748G>A |
| Protein | p.G250R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005157 | chr9:g.130862961G>A | c.748G>A | p.G250R | RefSeq | GRCh38/hg38 |
| NM_005157.6 | chr9:g.130862961G>A | c.748G>A | p.G250R | RefSeq | GRCh38/hg38 |
| NM_005157.5 | chr9:g.130862961G>A | c.748G>A | p.G250R | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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