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Gene | CDKN2A |
Variant | L130R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A L130R lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). L130R has been identified in sequencing studies (PMID: 25303977, PMID: 22156295), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A L130R |
Transcript | NM_000077.5 |
gDNA | chr9:g.21970970A>C |
cDNA | c.389T>G |
Protein | p.L130R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001195132 | chr9:g.21970970A>C | c.389T>G | p.L130R | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21970970A>C | c.389T>G | p.L130R | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21970970A>C | c.389T>G | p.L130R | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21970970A>C | c.389T>G | p.L130R | RefSeq | GRCh38/hg38 |
XM_011517676 | chr9:g.21970970A>C | c.389T>G | p.L130R | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21970970A>C | c.389T>G | p.L130R | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21970970A>C | c.389T>G | p.L130R | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21970970A>C | c.389T>G | p.L130R | RefSeq | GRCh38/hg38 |
XM_011517675 | chr9:g.21970970A>C | c.389T>G | p.L130R | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21970970A>C | c.389T>G | p.L130R | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21970970A>C | c.389T>G | p.L130R | RefSeq | GRCh38/hg38 |
NM_000077 | chr9:g.21970970A>C | c.389T>G | p.L130R | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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