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Gene ABL1
Variant Y245C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ABL1 Y245C (corresponds to Y226C in the canonical isoform) does not lie within any known functional domains of the Abl1 protein (UniProt.org). Y226C confers a gain of function to the Abl1 protein as demonstrated by increased STAT5 phosphorylation and elevated total phosphotyrosine levels in cultured cells (PMID: 28288113).
Associated Drug Resistance
Category Variants Paths

ABL1 mutant ABL1 act mut ABL1 Y245C

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Transcript NM_007313.3
gDNA chr9:g.130862890A>G
cDNA c.734A>G
Protein p.Y245C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007313.2 chr9:g.130862890A>G c.734A>G p.Y245C RefSeq GRCh38/hg38
NM_007313.3 chr9:g.130862890A>G c.734A>G p.Y245C 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 Y245C gain of function