CDKN2A S56fs
Gene Variant Detail

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Gene CDKN2A
Variant S56fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A S56fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 56 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). S56fs has not been characterized, however, due to the effects of other truncation mutations downstream of S56 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A S56fs

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Transcript NM_000077.5
gDNA chr9:g.(21971193_21971194)
cDNA c.(166_165)
Protein p.S56fs
Source Database RefSeq
Genome Build 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

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