Gene Variant Detail

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Gene CDKN2A
Variant G67R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A G67R lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). The functional effect of G67R is conflicting as it results in partial loss of Cdk4 binding and impaired growth inhibition in one study (PMID: 19260062), but inhibits proliferation and cell cycle progression to similar levels of wild-type protein in another study (PMID: 35001868), and therefore, its effect on Cdkn2a protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A G67R

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Transcript NM_000077.5
gDNA chr9:g.21971160C>G
cDNA c.199G>C
Protein p.G67R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000077 chr9:g.21971160C>G c.199G>C p.G67R RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971160C>G c.199G>C p.G67R RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971160C>G c.199G>C p.G67R RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971160C>G c.199G>C p.G67R RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971160C>G c.199G>C p.G67R RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971160C>G c.199G>C p.G67R RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971160C>G c.199G>C p.G67R RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971160C>G c.199G>C p.G67R RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971160C>G c.199G>C p.G67R RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971160C>G c.199G>C p.G67R RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971160C>G c.199G>C p.G67R RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971160C>G c.199G>C p.G67R RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries