Gene Variant Detail

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Gene ABL1
Variant Q252H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ABL1 Q252H lies within the protein kinase domain of the Abl1 protein (UniProt.org). Q252H results in a loss of inhibitor binding and has also been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 16046538, PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2022).
Associated Drug Resistance Y
Category Variants Paths

ABL1 mutant ABL1 Q252H

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Transcript NM_005157.5
gDNA chr9:g.130862969G>T
cDNA c.756G>T
Protein p.Q252H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157 chr9:g.130862969G>T c.756G>T p.Q252H RefSeq GRCh38/hg38
NM_005157.5 chr9:g.130862969G>T c.756G>T p.Q252H 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