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Gene | ABL1 |
Variant | T315V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ABL1 T315V lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315V has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 23044928), 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 T315V |
Transcript | NM_005157.6 |
gDNA | chr9:g.130872895_130872896delACinsGT |
cDNA | c.943_944delACinsGT |
Protein | p.T315V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157.5 | chr9:g.130872895_130872896delACinsGT | c.943_944delACinsGT | p.T315V | RefSeq | GRCh38/hg38 |
NM_005157.6 | chr9:g.130872895_130872896delACinsGT | c.943_944delACinsGT | p.T315V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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