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Gene | ABL1 |
Variant | L302H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ABL1 L302H lies within the protein kinase domain of the Abl1 protein (UniProt.org). ABL1 L302H has been associated with secondary drug resistance in the context of an ABL1 fusion (PMID: 33390067), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ABL1 mutant ABL1 L302H |
Transcript | NM_005157.6 |
gDNA | chr9:g.130872211T>A |
cDNA | c.905T>A |
Protein | p.L302H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157.6 | chr9:g.130872211T>A | c.905T>A | p.L302H | RefSeq | GRCh38/hg38 |
NM_005157.5 | chr9:g.130872211T>A | c.905T>A | p.L302H | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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