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Gene CDKN2A
Variant A76fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A A76fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 76 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). A76fs has not been characterized, however, due to the effects of other truncation mutations downstream of A76 (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 A76fs

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Transcript NM_000077.5
gDNA chr9:g.(21971133_21971134)
cDNA c.(226_225)
Protein p.A76fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047422598.1 chr9:g.(21970980_21970981) c.(226_225) p.A76fs RefSeq GRCh38/hg38
NM_058195.4 chr9:g.(21971176_21971177) c.(226_225) p.A76fs RefSeq GRCh38/hg38
XM_005251343.1 chr9:g.(21970980_21970981) c.(226_225) p.A76fs RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.(21971133_21971134) c.(226_225) p.A76fs RefSeq GRCh38/hg38
NM_000077 chr9:g.(21971133_21971134) c.(226_225) p.A76fs RefSeq GRCh38/hg38
NM_058195 chr9:g.(21971176_21971177) c.(226_225) p.A76fs RefSeq GRCh38/hg38
XM_011517675 chr9:g.(21971133_21971134) c.(226_225) p.A76fs RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.(21971133_21971134) c.(226_225) p.A76fs RefSeq GRCh38/hg38
NM_001363763.2 chr9:g.(21970980_21970981) c.(226_225) p.A76fs RefSeq GRCh38/hg38
NM_001195132 chr9:g.(21971133_21971134) c.(226_225) p.A76fs RefSeq GRCh38/hg38
XM_047422596.1 chr9:g.(21970980_21970981) c.(226_225) p.A76fs RefSeq GRCh38/hg38
XM_011517679.1 chr9:g.(21970980_21970981) c.(226_225) p.A76fs RefSeq GRCh38/hg38
XM_005251343 chr9:g.(21970980_21970981) c.(226_225) p.A76fs RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.(21971133_21971134) c.(226_225) p.A76fs RefSeq GRCh38/hg38
NM_058195.3 chr9:g.(21971176_21971177) c.(226_225) p.A76fs RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.(21971133_21971134) c.(226_225) p.A76fs RefSeq GRCh38/hg38
XM_011517679 chr9:g.(21970980_21970981) c.(226_225) p.A76fs RefSeq GRCh38/hg38
XM_011517676 chr9:g.(21971133_21971134) c.(226_225) p.A76fs RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21971133_21971134) c.(226_225) p.A76fs RefSeq GRCh38/hg38
NM_000077.4 chr9:g.(21971133_21971134) c.(226_225) p.A76fs RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.(21971133_21971134) c.(226_225) p.A76fs RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.(21971133_21971134) c.(226_225) p.A76fs RefSeq GRCh38/hg38
XM_047422597.1 chr9:g.(21970980_21970981) c.(226_225) p.A76fs RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries