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 G321L
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions ABL1 G321L (corresponding to G340L in isoform IB) lies within the protein kinase domain of the Abl1 protein (UniProt.org). G321L does not result in increased phosphorylation of CRKL by Abl1, but leads to increased cytoplasmic Abl1 retention and is associated with increased cell survival in culture (PMID: 26758680), and therefore, is predicted to lead to a gain of Abl1 protein function.
Associated Drug Resistance

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.130872913_130872914delGGinsCT
cDNA c.961_962delGGinsCT
Protein p.G321L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157 chr9:g.130872913_130872914delGGinsCT c.961_962delGGinsCT p.G321L RefSeq GRCh38/hg38
NM_005157.5 chr9:g.130872913_130872914delGGinsCT c.961_962delGGinsCT p.G321L 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
ABL1 G321L lung adenocarcinoma sensitive Dasatinib Preclinical Actionable In a preclinical study, treatment with Sprycel (dasatinib) in decreased CRKL phosphorylation and reduced viability of lung adenocarcinoma cells harboring ABL1 G321L (also reported as G340L) in culture (PMID: 26758680). 26758680
ABL1 G321L lung adenocarcinoma sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib) inhibited growth of a lung adenocarcinoma cell line harboring ABL1 G321L (also reported as G340L) in culture (PMID: 26758680). 26758680
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
ABL1 G321L gain of function - predicted