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RB1 I101fs - Gene Variant Detail

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Gene RB1
Variant I101fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions RB1 I101fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 101 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), I101fs is predicted to lead to a loss Rb1 protein function.
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 inact mut RB1 I101fs

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Transcript NM_000321.3
gDNA chr13:g.(48342634_48342635)
cDNA c.(301_300)
Protein p.I101fs
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 )
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