Gene Variant Detail

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Gene CDKN2A
Variant V96Afs*22
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A V96Afs*22 indicates a shift in the reading frame starting at amino acid 96 and terminating 22 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). V96Afs*22 has not been characterized, however, due to the effects of other truncation mutations downstream of V96 (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 V96Afs*22

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Transcript NM_000077.5
gDNA chr9:g.(21971005_21971073)
cDNA c.(286_354)
Protein p.V96Afs*22
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000077.4 chr9:g.(21971005_21971073) c.(286_354) p.V96Afs*22 RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.(21971005_21971073) c.(286_354) p.V96Afs*22 RefSeq GRCh38/hg38
NM_058197.5 chr9:g.(21974542_21974830) c.(286_354) p.V96Afs*22 RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.(21971005_21971073) c.(286_354) p.V96Afs*22 RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.(21971005_21971073) c.(286_354) p.V96Afs*22 RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21971005_21971073) c.(286_354) p.V96Afs*22 RefSeq GRCh38/hg38
NM_058197.4 chr9:g.(21974542_21974830) c.(286_354) p.V96Afs*22 RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.(21971005_21971073) c.(286_354) p.V96Afs*22 RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.(21971005_21971073) c.(286_354) p.V96Afs*22 RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.(21971005_21971073) c.(286_354) p.V96Afs*22 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 )
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  • 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