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Gene | ABL1 |
Variant | T315M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ABL1 T315M lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315M is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402, PMID: 31543464) and demonstrates catalytic efficiency (kcat/km) similar to wild-type Abl1 in an in vitro assay (PMID: 30684523), but has not been fully biochemically characterized and therefore, its effect on Abl1 protein function is unknown. |
Associated Drug Resistance | Y |
Category Variants Paths |
ABL1 mutant ABL1 T315M |
Transcript | NM_005157.6 |
gDNA | chr9:g.130872896_130872897delCTinsTG |
cDNA | c.944_945delCTinsTG |
Protein | p.T315M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157 | chr9:g.130872896_130872897delCTinsTG | c.944_945delCTinsTG | p.T315M | RefSeq | GRCh38/hg38 |
NM_005157.5 | chr9:g.130872896_130872897delCTinsTG | c.944_945delCTinsTG | p.T315M | RefSeq | GRCh38/hg38 |
NM_005157.6 | chr9:g.130872896_130872897delCTinsTG | c.944_945delCTinsTG | p.T315M | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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