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Gene | ABL1 |
Variant | H396P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ABL1 H396P lies within the protein kinase domain of the Abl1 protein (UniProt.org). H396P is predicted to lead to activation of Abl1 in structural analyses, and is associated with Abl1 inhibitor resistance (PMID: 16424036, PMID: 21481795), 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 H396P |
Transcript | NM_005157.6 |
gDNA | chr9:g.130874969A>C |
cDNA | c.1187A>C |
Protein | p.H396P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157 | chr9:g.130874969A>C | c.1187A>C | p.H396P | RefSeq | GRCh38/hg38 |
NM_005157.5 | chr9:g.130874969A>C | c.1187A>C | p.H396P | RefSeq | GRCh38/hg38 |
NM_005157.6 | chr9:g.130874969A>C | c.1187A>C | p.H396P | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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