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Gene CDKN2A
Variant S43Ifs*76
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A S43Ifs*76 indicates a shift in the reading frame starting at amino acid 43 and terminating 76 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). S43Ifs*76 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 CDKN2A S43Ifs*76

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Transcript NM_000077.5
gDNA chr9:g.21974699_21974700delAC
cDNA c.128_129delGT
Protein p.S43Ifs*76
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517676.3 chr9:g.21974699_21974700delAC c.128_129delGT p.S43Ifs*76 RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21974699_21974700delAC c.128_129delGT p.S43Ifs*76 RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21974699_21974700delAC c.128_129delGT p.S43Ifs*76 RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21974699_21974700delAC c.128_129delGT p.S43Ifs*76 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries