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Gene ABL1
Variant Y253H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ABL1 Y253H lies within the protein kinase domain of the Abl1 protein (UniProt.org). Y253H has been associated with resistance to Abl1 inhibitors (PMID: 29375916, PMID: 16482207), and demonstrates a modest increase in catalytic efficiency (kcat/km) in an in vitro assay (PMID: 30684523), but does not result in increased kinase activity or growth advantage in the context of BCR-ABL1 compared to wild-type BCR-ABL1 (PMID: 16482207), and therefore, its effect on Abl1 protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

ABL1 mutant ABL1 Y253H

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Transcript NM_005157.6
gDNA chr9:g.130862970T>C
cDNA c.757T>C
Protein p.Y253H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157.5 chr9:g.130862970T>C c.757T>C p.Y253H RefSeq GRCh38/hg38
NM_005157.6 chr9:g.130862970T>C c.757T>C p.Y253H RefSeq GRCh38/hg38
NM_005157 chr9:g.130862970T>C c.757T>C p.Y253H RefSeq GRCh38/hg38

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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