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Gene CDKN2A
Variant E69fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A E69fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 69 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). E69fs has not been characterized, however, due to the effects of other truncation mutations downstream of E69 (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 E69fs

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Transcript NM_000077.5
gDNA chr9:g.(21971154_21971155)
cDNA c.(205_204)
Protein p.E69fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517676.2 chr9:g.(21971154_21971155) c.(205_204) p.E69fs RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21971154_21971155) c.(205_204) p.E69fs RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.(21971154_21971155) c.(205_204) p.E69fs RefSeq GRCh38/hg38
XM_047422598.1 chr9:g.(21971001_21971002) c.(205_204) p.E69fs RefSeq GRCh38/hg38
XM_047422597.1 chr9:g.(21971001_21971002) c.(205_204) p.E69fs RefSeq GRCh38/hg38
NM_001363763.2 chr9:g.(21971001_21971002) c.(205_204) p.E69fs RefSeq GRCh38/hg38
XM_047422596.1 chr9:g.(21971001_21971002) c.(205_204) p.E69fs RefSeq GRCh38/hg38
NM_000077.4 chr9:g.(21971154_21971155) c.(205_204) p.E69fs RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.(21971154_21971155) c.(205_204) p.E69fs RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.(21971154_21971155) c.(205_204) p.E69fs RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.(21971154_21971155) c.(205_204) p.E69fs RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.(21971154_21971155) c.(205_204) p.E69fs RefSeq GRCh38/hg38

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