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Gene RB1
Variant Q344fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions RB1 Q344fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 344 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q344fs is predicted to lead to a loss of Rb1 protein function.
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 inact mut RB1 Q344fs

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Transcript NM_000321.3
gDNA chr13:g.(48367583_48367584)
cDNA c.(1030_1029)
Protein p.Q344fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000321.2 chr13:g.(48367583_48367584) c.(1030_1029) p.Q344fs RefSeq GRCh38/hg38
NM_000321 chr13:g.(48367583_48367584) c.(1030_1029) p.Q344fs RefSeq GRCh38/hg38
NM_001407165.1 chr13:g.(48367583_48367584) c.(1030_1029) p.Q344fs RefSeq GRCh38/hg38
NM_001407166.1 chr13:g.(48367583_48367584) c.(1030_1029) p.Q344fs RefSeq GRCh38/hg38
NM_000321.3 chr13:g.(48367583_48367584) c.(1030_1029) p.Q344fs RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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