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@jax.org

Gene ABL1
Variant Y253F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ABL1 Y253F lies within the protein kinase domain of the Abl1 protein (UniProt.org). Y253F has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL (PMID: 18827185, PMID: 23044928), and results in increased kinase activity and enhanced cell proliferation in culture in the context of BCR-ABL in one study (PMID: 16880519), but in another study demonstrates reduced kinase activity in an in vitro assay (PMID: 33820471), and therefore, its effect on Abl1 protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

ABL1 mutant ABL1 Y253F

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"

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_005157.5
gDNA chr9:g.130862971A>T
cDNA c.758A>T
Protein p.Y253F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157.5 chr9:g.130862971A>T c.758A>T p.Y253F RefSeq GRCh38/hg38
NM_005157 chr9:g.130862971A>T c.758A>T p.Y253F 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"

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