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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 |
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_000077.5 | 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_011517675.3 | chr9:g.(21971205_21971206) | c.(154_153) | p.M52fs | RefSeq | GRCh38/hg38 |
NM_001195132 | 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_001195132.1 | 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 |
NM_000077 | 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_011517675.2 | 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_001195132.2 | chr9:g.(21971205_21971206) | c.(154_153) | p.M52fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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