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Gene | ABL1 |
Variant | T315I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ABL1 T315I is a gatekeeper mutation that lies within the hinge region of the protein kinase domain of the Abl1 protein (PMID: 18794843). T315I has been demonstrated to occur as a secondary resistance mutation and results in increased kinase activity and transformation in the context of BCR-ABL1 in cell culture (PMID: 11423618, PMID: 18794843, PMID: 27890928), and results in reduced catalytic efficiency (kcat/km) in an in vitro assay (PMID: 30684523), but has not been fully characterized and therefore, its effect on Abl1 protein function is unknown. |
Associated Drug Resistance | Y |
Category Variants Paths |
ABL1 mutant ABL1 T315I |
Transcript | NM_005157.6 |
gDNA | chr9:g.130872896C>T |
cDNA | c.944C>T |
Protein | p.T315I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157 | chr9:g.130872896C>T | c.944C>T | p.T315I | RefSeq | GRCh38/hg38 |
NM_005157.6 | chr9:g.130872896C>T | c.944C>T | p.T315I | RefSeq | GRCh38/hg38 |
NM_005157.5 | chr9:g.130872896C>T | c.944C>T | p.T315I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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