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Gene ABL1
Variant L384M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ABL1 L384M lies within the protein kinase domain of the Abl1 protein (UniProt.org). L384M has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2024).
Associated Drug Resistance Y
Category Variants Paths

ABL1 mutant ABL1 L384M

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Transcript NM_005157.6
gDNA chr9:g.130874932C>A
cDNA c.1150C>A
Protein p.L384M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157 chr9:g.130874932C>A c.1150C>A p.L384M RefSeq GRCh38/hg38
NM_005157.6 chr9:g.130874932C>A c.1150C>A p.L384M RefSeq GRCh38/hg38
NM_005157.5 chr9:g.130874932C>A c.1150C>A p.L384M RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References