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Gene | ABL1 |
Variant | F486S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ABL1 F486S lies within the protein kinase domain of the Abl1 protein (UniProt.org). F486S has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 23044928), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ABL1 mutant ABL1 F486S |
Transcript | NM_005157.6 |
gDNA | chr9:g.130880101T>C |
cDNA | c.1457T>C |
Protein | p.F486S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157.5 | chr9:g.130880101T>C | c.1457T>C | p.F486S | RefSeq | GRCh38/hg38 |
NM_005157.6 | chr9:g.130880101T>C | c.1457T>C | p.F486S | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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