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 56 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). S56fs has not been characterized, however, nonsense mutations downstream of S56 are inactivating (PMID: 9053859, PMID: 8668202), thus S56fs is predicted to lead to a loss of Cdkn2a protein function.
Associated Drug Resistance

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Transcript NM_000077
gDNA chr9:g.(21971193_21971194)
cDNA c.(166_165)
Protein p.S56fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000077 chr9:g.(21971193_21971194) c.(166_165) p.S56fs RefSeq GRCh38/hg38
XM_011517675 chr9:g.(21971193_21971194) c.(166_165) p.S56fs RefSeq GRCh38/hg38
XM_011517676 chr9:g.(21971193_21971194) c.(166_165) p.S56fs RefSeq GRCh38/hg38
NM_001195132 chr9:g.(21971193_21971194) c.(166_165) p.S56fs RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Protein Effect Treatment Approaches
CDKN2A S56fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References