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Gene CDKN2A
Variant V82fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A V82fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 82 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). V82fs has not been characterized, however, due to the effects of other truncation mutations downstream of V82 (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 V82fs

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Transcript NM_000077.5
gDNA chr9:g.(21971115_21971116)
cDNA c.(244_243)
Protein p.V82fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517675.3 chr9:g.(21971115_21971116) c.(244_243) p.V82fs RefSeq GRCh38/hg38
XM_011517675 chr9:g.(21971115_21971116) c.(244_243) p.V82fs RefSeq GRCh38/hg38
XM_011517676 chr9:g.(21971115_21971116) c.(244_243) p.V82fs RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.(21971115_21971116) c.(244_243) p.V82fs RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21971115_21971116) c.(244_243) p.V82fs RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.(21971115_21971116) c.(244_243) p.V82fs RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.(21971115_21971116) c.(244_243) p.V82fs RefSeq GRCh38/hg38
NM_000077.4 chr9:g.(21971115_21971116) c.(244_243) p.V82fs RefSeq GRCh38/hg38
NM_001195132 chr9:g.(21971115_21971116) c.(244_243) p.V82fs RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.(21971115_21971116) c.(244_243) p.V82fs RefSeq GRCh38/hg38
NM_000077 chr9:g.(21971115_21971116) c.(244_243) p.V82fs RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.(21971115_21971116) c.(244_243) p.V82fs RefSeq GRCh38/hg38

Filtering

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Molecular Profile Protein Effect Treatment Approaches
CDKN2A V82fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor