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ABL1 T315I - Gene Variant Detail

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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

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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