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Gene ABL1
Variant G250H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ABL1 G250H lies within the protein kinase domain of the Abl1 protein (UniProt.org). G250H has been identified in the scientific literature (PMID: 28329763), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2024).
Associated Drug Resistance
Category Variants Paths

ABL1 mutant ABL1 G250H

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Transcript NM_005157.6
gDNA chr9:g.130862961_130862963delGGGinsCAT
cDNA c.748_750delGGGinsCAT
Protein p.G250H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157.5 chr9:g.130862961_130862963delGGGinsCAT c.748_750delGGGinsCAT p.G250H RefSeq GRCh38/hg38
NM_005157 chr9:g.130862961_130862963delGGGinsCAT c.748_750delGGGinsCAT p.G250H RefSeq GRCh38/hg38
NM_005157.6 chr9:g.130862961_130862963delGGGinsCAT c.748_750delGGGinsCAT p.G250H 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
ABL1 G250H unknown