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Gene ABL1
Variant L248R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ABL1 L248R lies within the protein kinase domain of the Abl1 protein (UniProt.org). L248R has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 23044928, PMID: 31493432), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance Y
Category Variants Paths

ABL1 mutant ABL1 L248R

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Transcript NM_005157.6
gDNA chr9:g.130862956T>G
cDNA c.743T>G
Protein p.L248R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157.5 chr9:g.130862956T>G c.743T>G p.L248R RefSeq GRCh38/hg38
NM_005157.6 chr9:g.130862956T>G c.743T>G p.L248R RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 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