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 P309fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ABL1 P309fs results in a change in the amino acid sequence of the Abl1 protein beginning at aa 309 of 1130, likely resulting in premature truncation of the functional protein (UniProt.org). Due the loss of multiple functional domains, including the DNA-binding domain (UniProt.org), P309fs is predicted to lead to a loss of Abl1 protein function.
Associated Drug Resistance
Category Variants Paths

ABL1 mutant ABL1 inact mut ABL1 P309fs

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.(130872876_130872877)
cDNA c.(925_924)
Protein p.P309fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157.5 chr9:g.(130872876_130872877) c.(925_924) p.P309fs RefSeq GRCh38/hg38
NM_005157.6 chr9:g.(130872876_130872877) c.(925_924) p.P309fs RefSeq GRCh38/hg38
NM_005157 chr9:g.(130872876_130872877) c.(925_924) p.P309fs 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