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 | M244V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ABL1 M244V lies within the protein kinase domain of the Abl1 protein (UniProt.org). M244V has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ABL1 mutant ABL1 M244V |
Transcript | NM_005157.6 |
gDNA | chr9:g.130862943A>G |
cDNA | c.730A>G |
Protein | p.M244V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157.5 | chr9:g.130862943A>G | c.730A>G | p.M244V | RefSeq | GRCh38/hg38 |
NM_005157 | chr9:g.130862943A>G | c.730A>G | p.M244V | RefSeq | GRCh38/hg38 |
NM_005157.6 | chr9:g.130862943A>G | c.730A>G | p.M244V | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ABL1 M244V | unknown |