Gene Variant Detail

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Gene CDKN2A
Variant A102fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A A102fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 102 of 156, likely resulting in premature truncation of the functional protein (UniProt). A102fs has not been characterized, however, nonsense mutations downstream of A102 are inactivating (PMID: 9053859, PMID: 8668202), thus A102fs is predicted to lead to a loss of Cdkn2a protein function.
Associated Drug Resistance

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Transcript NM_000077
gDNA chr9:g.(21971055_21971056)
cDNA c.(304_303)
Protein p.A102fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517675 chr9:g.(21971055_21971056) c.(304_303) p.A102fs RefSeq GRCh38/hg38
NM_001195132 chr9:g.(21971055_21971056) c.(304_303) p.A102fs RefSeq GRCh38/hg38
NM_000077 chr9:g.(21971055_21971056) c.(304_303) p.A102fs RefSeq GRCh38/hg38
XM_011517676 chr9:g.(21971055_21971056) c.(304_303) p.A102fs RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Protein Effect Treatment Approaches
CDKN2A A102fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References