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Gene CDKN2A
Variant C72fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A C72fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 72 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). C72fs has not been characterized, however, due to the effects of other truncation mutations downstream of C72 (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 C72fs

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Transcript NM_000077.5
gDNA chr9:g.(21971145_21971146)
cDNA c.(214_213)
Protein p.C72fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517676.2 chr9:g.(21971145_21971146) c.(214_213) p.C72fs RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.(21971145_21971146) c.(214_213) p.C72fs RefSeq GRCh38/hg38
NM_000077 chr9:g.(21971145_21971146) c.(214_213) p.C72fs RefSeq GRCh38/hg38
XM_011517675 chr9:g.(21971145_21971146) c.(214_213) p.C72fs RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21971145_21971146) c.(214_213) p.C72fs RefSeq GRCh38/hg38
XM_011517676 chr9:g.(21971145_21971146) c.(214_213) p.C72fs RefSeq GRCh38/hg38
NM_001195132 chr9:g.(21971145_21971146) c.(214_213) p.C72fs RefSeq GRCh38/hg38
NM_000077.4 chr9:g.(21971145_21971146) c.(214_213) p.C72fs RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.(21971145_21971146) c.(214_213) p.C72fs RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.(21971145_21971146) c.(214_213) p.C72fs RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.(21971145_21971146) c.(214_213) p.C72fs RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.(21971145_21971146) c.(214_213) p.C72fs RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References