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Gene | CDKN2A |
Variant | G67S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A G67S lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). G67S demonstrates reduced binding to Cdk proteins, but is still capable of inducing G1 arrest in cultured cells (PMID: 11518711, PMID: 20340136), and therefore, its effect on Cdkn2a protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A G67S |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971160C>T |
cDNA | c.199G>A |
Protein | p.G67S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001195132.2 | chr9:g.21971160C>T | c.199G>A | p.G67S | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21971160C>T | c.199G>A | p.G67S | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21971160C>T | c.199G>A | p.G67S | RefSeq | GRCh38/hg38 |
XM_011517676 | chr9:g.21971160C>T | c.199G>A | p.G67S | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21971160C>T | c.199G>A | p.G67S | RefSeq | GRCh38/hg38 |
NM_001195132 | chr9:g.21971160C>T | c.199G>A | p.G67S | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21971160C>T | c.199G>A | p.G67S | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21971160C>T | c.199G>A | p.G67S | RefSeq | GRCh38/hg38 |
NM_000077 | chr9:g.21971160C>T | c.199G>A | p.G67S | RefSeq | GRCh38/hg38 |
XM_011517675 | chr9:g.21971160C>T | c.199G>A | p.G67S | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21971160C>T | c.199G>A | p.G67S | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21971160C>T | c.199G>A | p.G67S | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CDKN2A G67S | unknown |