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Gene | ABL1 |
Variant | Y253F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ABL1 Y253F lies within the protein kinase domain of the Abl1 protein (UniProt.org). Y253F has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL (PMID: 18827185, PMID: 23044928), and results in increased kinase activity and enhanced cell proliferation in culture in the context of BCR-ABL in one study (PMID: 16880519), but in another study demonstrates reduced kinase activity in an in vitro assay (PMID: 33820471), and therefore, its effect on Abl1 protein function is unknown. |
Associated Drug Resistance | Y |
Category Variants Paths |
ABL1 mutant ABL1 Y253F |
Transcript | NM_005157.6 |
gDNA | chr9:g.130862971A>T |
cDNA | c.758A>T |
Protein | p.Y253F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157 | chr9:g.130862971A>T | c.758A>T | p.Y253F | RefSeq | GRCh38/hg38 |
NM_005157.6 | chr9:g.130862971A>T | c.758A>T | p.Y253F | RefSeq | GRCh38/hg38 |
NM_005157.5 | chr9:g.130862971A>T | c.758A>T | p.Y253F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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