Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| 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_005157.6 | 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 | chr9:g.130872896_130872897delCTinsTG | c.944_945delCTinsTG | p.T315M | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|