RB1 P732Lfs*12
Gene Variant Detail

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Gene RB1
Variant P732Lfs*12
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions RB1 P732Lfs*12 indicates a shift in the reading frame starting at amino acid 732 and terminating 12 residues downstream causing a premature truncation of the 928 amino acid Rb1 protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), P732Lfs*12 is predicted to lead to a loss of Rb1 function.
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 inact mut RB1 P732Lfs*12

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Transcript NM_000321.3
gDNA chr13:g.48463819delC
cDNA c.2195delC
Protein p.P732Lfs*12
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407165.1 chr13:g.48463819delC c.2195delC p.P732Lfs*12 RefSeq GRCh38/hg38
NM_000321.3 chr13:g.48463819delC c.2195delC p.P732Lfs*12 RefSeq GRCh38/hg38

Filtering

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