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Gene | CDKN2A |
Variant | R128W |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CDKN2A R128W lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). R128W is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by a loss of Sp1 binding in cultured cells (PMID: 24163379). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A R128W |
Transcript | NM_000077.5 |
gDNA | chr9:g.21970977G>A |
cDNA | c.382C>T |
Protein | p.R128W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000077 | chr9:g.21970977G>A | c.382C>T | p.R128W | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21970977G>A | c.382C>T | p.R128W | RefSeq | GRCh38/hg38 |
XM_011517676 | chr9:g.21970977G>A | c.382C>T | p.R128W | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21970977G>A | c.382C>T | p.R128W | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21970977G>A | c.382C>T | p.R128W | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21970977G>A | c.382C>T | p.R128W | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21970977G>A | c.382C>T | p.R128W | RefSeq | GRCh38/hg38 |
XM_011517675 | chr9:g.21970977G>A | c.382C>T | p.R128W | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21970977G>A | c.382C>T | p.R128W | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21970977G>A | c.382C>T | p.R128W | RefSeq | GRCh38/hg38 |
NM_001195132 | chr9:g.21970977G>A | c.382C>T | p.R128W | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21970977G>A | c.382C>T | p.R128W | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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