Gene Variant Detail

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Gene RB1
Variant K319Nfs*13
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions RB1 K319Nfs*13 indicates a shift in the reading frame starting at amino acid 319 and terminating 13 residues downstream causing a premature truncation of the 928 amino acid Rb1 protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), K319Nfs*13 is predicted to lead to a loss of Rb1 function.
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 inact mut RB1 K319Nfs*13

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Transcript NM_000321.3
gDNA chr13:g.48367511delA
cDNA c.957delA
Protein p.K319Nfs*13
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407165.1 chr13:g.48367511delA c.957delA p.K319Nfs*13 RefSeq GRCh38/hg38
NM_000321.2 chr13:g.48367511delA c.957delA p.K319Nfs*13 RefSeq GRCh38/hg38
NM_001407166.1 chr13:g.48367511delA c.957delA p.K319Nfs*13 RefSeq GRCh38/hg38
NM_000321 chr13:g.48367508delT c.954delT p.K319Nfs*13 RefSeq GRCh38/hg38
NM_000321.3 chr13:g.48367511delA c.957delA p.K319Nfs*13 RefSeq GRCh38/hg38

Filtering

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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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Protein Effect Treatment Approaches
RB1 K319Nfs*13 loss of function - predicted HDAC Inhibitor