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Gene CDKN2A
Variant L78Hfs*41
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions CDKN2A L78Hfs*41 indicates a shift in the reading frame starting at amino acid 78 and terminating 41 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). L78Hfs*41 confers a loss of function to Cdkn2a as demonstrated by failure to inhibit proliferation and cell cycle progression in culture (PMID: 29533785, PMID: 35001868).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A L78fs CDKN2A L78Hfs*41

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Transcript NM_000077.5
gDNA chr9:g.21971128_21971129delAG
cDNA c.233_234delTC
Protein p.L78Hfs*41
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517675.3 chr9:g.21971128_21971129delAG c.233_234delTC p.L78Hfs*41 RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971128_21971129delAG c.233_234delTC p.L78Hfs*41 RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971128_21971129delAG c.233_234delTC p.L78Hfs*41 RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971128_21971129delAG c.233_234delTC p.L78Hfs*41 RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971128_21971129delAG c.233_234delTC p.L78Hfs*41 RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971128_21971129delAG c.233_234delTC p.L78Hfs*41 RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971128_21971129delAG c.233_234delTC p.L78Hfs*41 RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971128_21971129delAG c.233_234delTC p.L78Hfs*41 RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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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Molecular Profile Protein Effect Treatment Approaches
CDKN2A L78Hfs*41 loss of function