Gene Variant Detail

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Gene CDKN2A
Variant Y44Lfs*76
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A Y44Lfs*76 indicates a shift in the reading frame starting at amino acid 44 and terminating 76 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). Y44Lfs*76 has not been characterized, however, due to the effects of other truncation mutations downstream of Y44 (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 Y44fs CDKN2A Y44Lfs*76

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Transcript NM_000077.5
gDNA chr9:g.21974699dupA
cDNA c.130dupT
Protein p.Y44Lfs*76
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000077 chr9:g.21974698_21974699insG c.129_130insC p.Y44Lfs*76 RefSeq GRCh38/hg38
NM_058197.5 chr9:g.21974697_21974698insTTGGGA c.130_131insTCCCAA p.Y44Lfs*76 RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21974699dupA c.130dupT p.Y44Lfs*76 RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21974699dupA c.130dupT p.Y44Lfs*76 RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21974699dupA c.130dupT p.Y44Lfs*76 RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21974699dupA c.130dupT p.Y44Lfs*76 RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21974699dupA c.130dupT p.Y44Lfs*76 RefSeq GRCh38/hg38
NM_058197.4 chr9:g.21974697_21974698insTTGGGA c.130_131insTCCCAA p.Y44Lfs*76 RefSeq GRCh38/hg38
NM_001195132 chr9:g.21974698_21974699insG c.129_130insC p.Y44Lfs*76 RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21974699dupA c.130dupT p.Y44Lfs*76 RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21974699dupA c.130dupT p.Y44Lfs*76 RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21974699dupA c.130dupT p.Y44Lfs*76 RefSeq GRCh38/hg38
NM_058197 chr9:g.21974698_21974699insGGGGAG c.129_130insCTCCCC p.Y44Lfs*76 RefSeq GRCh38/hg38
XM_011517675 chr9:g.21974698_21974699insG c.129_130insC p.Y44Lfs*76 RefSeq GRCh38/hg38
XM_011517676 chr9:g.21974698_21974699insG c.129_130insC p.Y44Lfs*76 RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References