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Gene CDKN2A
Variant A68fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A A68fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 68 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). A68fs has not been characterized, however, due to the effects of other truncation mutations downstream of A68 (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 A68fs

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Transcript NM_000077.5
gDNA chr9:g.(21971157_21971158)
cDNA c.(202_201)
Protein p.A68fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000077.4 chr9:g.(21971157_21971158) c.(202_201) p.A68fs RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.(21971157_21971158) c.(202_201) p.A68fs RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.(21971157_21971158) c.(202_201) p.A68fs RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.(21971157_21971158) c.(202_201) p.A68fs RefSeq GRCh38/hg38
XM_011517676 chr9:g.(21971157_21971158) c.(202_201) p.A68fs RefSeq GRCh38/hg38
XM_011517675 chr9:g.(21971157_21971158) c.(202_201) p.A68fs RefSeq GRCh38/hg38
NM_001195132 chr9:g.(21971157_21971158) c.(202_201) p.A68fs RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.(21971157_21971158) c.(202_201) p.A68fs RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.(21971157_21971158) c.(202_201) p.A68fs RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.(21971157_21971158) c.(202_201) p.A68fs RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21971157_21971158) c.(202_201) p.A68fs RefSeq GRCh38/hg38
NM_000077 chr9:g.(21971157_21971158) c.(202_201) p.A68fs RefSeq GRCh38/hg38

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