Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene ABL1
Variant P230E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ABL1 P230E does not lie within any known functional domains of the Abl1 protein (UniProt.org). P230E combined with ABL1 P232E results in constitutive activation of Abl1 in an in vitro kinase assay (PMID: 20519627) and increased phosphorylation in cultured cells (PMID: 18354488), but has not been individually characterized and therefore, its effect on Abl1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

ABL1 mutant ABL1 P230E

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.

Transcript NM_005157.6
gDNA chr9:g.130862901_130862903delCCCinsGAG
cDNA c.688_690delCCCinsGAG
Protein p.P230E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157.6 chr9:g.130862901_130862903delCCCinsGAG c.688_690delCCCinsGAG p.P230E RefSeq GRCh38/hg38
NM_005157.5 chr9:g.130862901_130862903delCCCinsGAG c.688_690delCCCinsGAG p.P230E 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References