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Gene ABL1
Variant D276G
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions ABL1 D276G lies within the protein kinase domain of the Abl1 protein (UniProt.org). D276G results in increased kinase activity in an in vitro assay and has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL (PMID: 15510211), and therefore, is predicted to lead to a gain of Abl1 protein function.
Associated Drug Resistance Y
Category Variants Paths

ABL1 mutant ABL1 act mut ABL1 D276G

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Transcript NM_005157.6
gDNA chr9:g.130872133A>G
cDNA c.827A>G
Protein p.D276G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157.6 chr9:g.130872133A>G c.827A>G p.D276G RefSeq GRCh38/hg38
NM_005157.5 chr9:g.130872133A>G c.827A>G p.D276G RefSeq GRCh38/hg38
NM_005157 chr9:g.130872133A>G c.827A>G p.D276G 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")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
ABL1 D276G gain of function - predicted