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Gene | ABL1 |
Variant | E453K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ABL1 E453K lies within the protein kinase domain of the Abl1 protein (UniProt.org). E459K has been associated with Abl1 inhibitor resistance in combination with other Abl1 variants in the context of BCR-ABL1 (PMID: 25132497, PMID: 26582647), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ABL1 mutant ABL1 E453K |
Transcript | NM_005157.6 |
gDNA | chr9:g.130878501G>A |
cDNA | c.1357G>A |
Protein | p.E453K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157 | chr9:g.130878501G>A | c.1357G>A | p.E453K | RefSeq | GRCh38/hg38 |
NM_005157.6 | chr9:g.130878501G>A | c.1357G>A | p.E453K | RefSeq | GRCh38/hg38 |
NM_005157.5 | chr9:g.130878501G>A | c.1357G>A | p.E453K | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ABL1 E453K | unknown |