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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

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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_005157.5 chr9:g.130872896C>T c.944C>T p.T315I RefSeq GRCh38/hg38
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

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References