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Gene ABL1
Variant I242M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ABL1 I242M lies within the protein kinase domain of the Abl1 protein (UniProt.org). I242M does not result in expression of the Abl1 protein or phosphorylation of the downstream signaling molecule Crkl in culture (PMID: 26758680), but has not been fully biochemically characterized and therefore, its effect on Abl1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

ABL1 mutant ABL1 I242M

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Transcript NM_005157.6
gDNA chr9:g.130862939C>G
cDNA c.726C>G
Protein p.I242M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157.6 chr9:g.130862939C>G c.726C>G p.I242M RefSeq GRCh38/hg38
NM_005157.5 chr9:g.130862939C>G c.726C>G p.I242M RefSeq GRCh38/hg38
NM_005157 chr9:g.130862939C>G c.726C>G p.I242M 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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