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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 |
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 |
---|---|---|---|---|---|
NM_000077.4 | 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 |
NM_001195132.2 | 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_047422598.1 | 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_000077.5 | chr9:g.(21971154_21971155) | c.(205_204) | p.E69fs | RefSeq | GRCh38/hg38 |
NM_001363763.2 | chr9:g.(21971001_21971002) | c.(205_204) | p.E69fs | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.(21971154_21971155) | c.(205_204) | p.E69fs | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.(21971154_21971155) | c.(205_204) | p.E69fs | RefSeq | GRCh38/hg38 |
XM_047422597.1 | chr9:g.(21971001_21971002) | c.(205_204) | p.E69fs | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.(21971154_21971155) | c.(205_204) | p.E69fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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