Gene Variant Detail

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Gene ABL1
Variant M351T
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ABL1 M351T lies within the protein kinase domain of the Abl1 protein (UniProt.org). M351T results in loss of inhibitor binding (PMID: 24456693) and has been demonstrated to occur as a secondary resistance mutation (PMID: 16046538, PMID: 16880519), and in the context of BCR-ABL1 leads to decreased transformation activity and kinase activity compared to wild-type BCR-ABL1 (PMID: 16046538, PMID: 16880519), and individually results in decreased kinase activity in cell culture (PMID: 33820471), and therefore, is predicted to lead to a loss of Abl1 protein function.
Associated Drug Resistance Y
Category Variants Paths

ABL1 mutant ABL1 inact mut ABL1 M351T

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Transcript NM_005157.5
gDNA chr9:g.130873004T>C
cDNA c.1052T>C
Protein p.M351T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157 chr9:g.130873004T>C c.1052T>C p.M351T RefSeq GRCh38/hg38
NM_005157.5 chr9:g.130873004T>C c.1052T>C p.M351T RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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