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Gene ABL1
Variant P309fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ABL1 P309fs results in a change in the amino acid sequence of the Abl1 protein beginning at aa 309 of 1130, likely resulting in premature truncation of the functional protein (UniProt.org). Due the loss of multiple functional domains, including the DNA-binding domain (UniProt.org), P309fs is predicted to lead to a loss of Abl1 protein function.
Associated Drug Resistance
Category Variants Paths

ABL1 mutant ABL1 inact mut ABL1 P309fs

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Transcript NM_005157.6
gDNA chr9:g.(130872876_130872877)
cDNA c.(925_924)
Protein p.P309fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157.5 chr9:g.(130872876_130872877) c.(925_924) p.P309fs RefSeq GRCh38/hg38
NM_005157 chr9:g.(130872876_130872877) c.(925_924) p.P309fs RefSeq GRCh38/hg38
NM_005157.6 chr9:g.(130872876_130872877) c.(925_924) p.P309fs RefSeq GRCh38/hg38

Filtering

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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