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Gene CDKN2A
Variant S43fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A S43fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 43 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). S43fs has not been characterized, however, due to the effects of other truncation mutations downstream of S43 (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 S43fs

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Transcript NM_000077.5
gDNA chr9:g.(21974701_21974702)
cDNA c.(127_126)
Protein p.S43fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517675.3 chr9:g.(21974701_21974702) c.(127_126) p.S43fs RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.(21974701_21974702) c.(127_126) p.S43fs RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.(21974701_21974702) c.(127_126) p.S43fs RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21974701_21974702) c.(127_126) p.S43fs RefSeq GRCh38/hg38
NM_058197.5 chr9:g.(21974701_21974702) c.(127_126) p.S43fs 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries