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Gene ABL1
Variant R362fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ABL1 R362fs results in a change in the amino acid sequence of the Abl1 protein beginning at aa 362 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), R362fs is predicted to lead to a loss of Abl1 protein function.
Associated Drug Resistance
Category Variants Paths

ABL1 mutant ABL1 inact mut ABL1 R362fs

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Transcript NM_005157.6
gDNA chr9:g.(130873035_130873036)
cDNA c.(1084_1083)
Protein p.R362fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157 chr9:g.(130873035_130873036) c.(1084_1083) p.R362fs RefSeq GRCh38/hg38
NM_005157.6 chr9:g.(130873035_130873036) c.(1084_1083) p.R362fs RefSeq GRCh38/hg38
NM_005157.5 chr9:g.(130873035_130873036) c.(1084_1083) p.R362fs RefSeq GRCh38/hg38

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