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Gene CDKN2A
Variant M52fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A M52fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 52 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). M52fs has not been characterized, however, due to the effects of other truncation mutations downstream of M52 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A M52fs

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Transcript NM_000077.5
gDNA chr9:g.(21971205_21971206)
cDNA c.(154_153)
Protein p.M52fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195132 chr9:g.(21971205_21971206) c.(154_153) p.M52fs RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.(21971205_21971206) c.(154_153) p.M52fs RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.(21971205_21971206) c.(154_153) p.M52fs RefSeq GRCh38/hg38
NM_000077 chr9:g.(21971205_21971206) c.(154_153) p.M52fs RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21971205_21971206) c.(154_153) p.M52fs RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.(21971205_21971206) c.(154_153) p.M52fs RefSeq GRCh38/hg38
NM_000077.4 chr9:g.(21971205_21971206) c.(154_153) p.M52fs RefSeq GRCh38/hg38
XM_011517676 chr9:g.(21971205_21971206) c.(154_153) p.M52fs RefSeq GRCh38/hg38
XM_011517675 chr9:g.(21971205_21971206) c.(154_153) p.M52fs RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.(21971205_21971206) c.(154_153) p.M52fs RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.(21971205_21971206) c.(154_153) p.M52fs RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.(21971205_21971206) c.(154_153) p.M52fs RefSeq GRCh38/hg38

Filtering

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Molecular Profile Protein Effect Treatment Approaches
CDKN2A M52fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor