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Gene | CDKN2A |
Variant | L63_P70del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A L63_P70del results in the deletion of eight amino acids in ANK repeat 2 of the Cdkn2a protein from amino acids 63 to 70 (UniProt.org). L63_P70del has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A L63_P70del |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971149_21971172del24 |
cDNA | c.187_210del24 |
Protein | p.L63_P70del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011517676.3 | chr9:g.21971149_21971172del24 | c.187_210del24 | p.L63_P70del | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21971149_21971172del24 | c.187_210del24 | p.L63_P70del | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21971149_21971172del24 | c.187_210del24 | p.L63_P70del | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21971149_21971172del24 | c.187_210del24 | p.L63_P70del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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