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Gene | ABL1 |
Variant | E292L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ABL1 E292L lies within the protein kinase domain of the Abl1 protein (UniProt.org). E292L has been identified in the scientific literature (PMID: 23044928), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ABL1 mutant ABL1 E292L |
Transcript | NM_005157.6 |
gDNA | chr9:g.130872180_130872181delGAinsCT |
cDNA | c.874_875delGAinsCT |
Protein | p.E292L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157.6 | chr9:g.130872180_130872181delGAinsCT | c.874_875delGAinsCT | p.E292L | RefSeq | GRCh38/hg38 |
NM_005157.5 | chr9:g.130872180_130872181delGAinsCT | c.874_875delGAinsCT | p.E292L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ABL1 E292L | unknown |