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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 |
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 |
---|---|---|---|---|---|
XM_011517675.3 | chr9:g.21974699dupA | c.130dupT | p.Y44Lfs*76 | RefSeq | GRCh38/hg38 |
NM_000077 | chr9:g.21974698_21974699insG | c.129_130insC | p.Y44Lfs*76 | RefSeq | GRCh38/hg38 |
NM_058197 | chr9:g.21974698_21974699insGGGGAG | c.129_130insCTCCCC | p.Y44Lfs*76 | RefSeq | GRCh38/hg38 |
XM_011517676 | 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 |
NM_000077.4 | 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 |
XM_011517675.2 | chr9:g.21974699dupA | c.130dupT | p.Y44Lfs*76 | RefSeq | GRCh38/hg38 |
NM_058197.5 | chr9:g.21974697_21974698insTTGGGA | c.130_131insTCCCAA | p.Y44Lfs*76 | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21974699dupA | c.130dupT | p.Y44Lfs*76 | RefSeq | GRCh38/hg38 |
NM_001195132.2 | 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 |
XM_011517675 | chr9:g.21974698_21974699insG | c.129_130insC | p.Y44Lfs*76 | RefSeq | GRCh38/hg38 |
NM_001195132 | chr9:g.21974698_21974699insG | c.129_130insC | p.Y44Lfs*76 | RefSeq | GRCh38/hg38 |
NM_058197.4 | chr9:g.21974697_21974698insTTGGGA | c.130_131insTCCCAA | p.Y44Lfs*76 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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