Gene Variant Detail

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Gene ABL1
Variant E308*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ABL1 E308* results in a premature truncation of the Abl1 protein at amino acid 308 of 1130 (UniProt.org). Due the loss of multiple functional domains, including the DNA-binding domain (UniProt.org), E308* is predicted to result in a loss of Abl1 protein function.
Associated Drug Resistance
Category Variants Paths

ABL1 mutant ABL1 inact mut ABL1 E308*

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Transcript NM_005157.5
gDNA chr9:g.130872874G>T
cDNA c.922G>T
Protein p.E308*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157.5 chr9:g.130872874G>T c.922G>T p.E308* RefSeq GRCh38/hg38
NM_005157 chr9:g.130872874G>T c.922G>T p.E308* RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • 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