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Gene RB1
Variant A11fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions RB1 A11fs results in a change in the amino acid sequence of the Rb1 protein beginning at 11 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), A11fs is predicted to lead to a loss of Rb1 protein function.
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 inact mut RB1 A11fs

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Transcript NM_000321.3
gDNA chr13:g.(48303942_48303943)
cDNA c.(31_30)
Protein p.A11fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407165.1 chr13:g.(48303942_48303943) c.(31_30) p.A11fs RefSeq GRCh38/hg38
NM_001407167.1 chr13:g.(48303942_48303943) c.(31_30) p.A11fs RefSeq GRCh38/hg38
NM_000321.2 chr13:g.(48303942_48303943) c.(31_30) p.A11fs RefSeq GRCh38/hg38
NM_000321.3 chr13:g.(48303942_48303943) c.(31_30) p.A11fs RefSeq GRCh38/hg38
NM_000321 chr13:g.48303941_48303942insG c.29_30insG p.A11fs*20 RefSeq GRCh38/hg38
NM_001407166.1 chr13:g.(48303942_48303943) c.(31_30) p.A11fs RefSeq GRCh38/hg38

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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