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Gene | ABL1 |
Variant | N368S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ABL1 N368S lies within the protein kinase domain of the Abl1 protein (UniProt.org). N368S has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 24456693), and results in increased cell proliferation (PMID: 34750265), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown. |
Associated Drug Resistance | Y |
Category Variants Paths |
ABL1 mutant ABL1 N368S |
Transcript | NM_005157.6 |
gDNA | chr9:g.130874885A>G |
cDNA | c.1103A>G |
Protein | p.N368S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157.5 | chr9:g.130874885A>G | c.1103A>G | p.N368S | RefSeq | GRCh38/hg38 |
NM_005157.6 | chr9:g.130874885A>G | c.1103A>G | p.N368S | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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