Gene Variant Detail

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Gene CDKN2A
Variant Q50fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A Q50fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 50 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). Q50fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q50 (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 Q50fs

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Transcript NM_000077.5
gDNA chr9:g.(21974680_21974681)
cDNA c.(148_147)
Protein p.Q50fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517676 chr9:g.(21974680_21974681) c.(148_147) p.Q50fs RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.(21974680_21974681) c.(148_147) p.Q50fs RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.(21974680_21974681) c.(148_147) p.Q50fs RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.(21974680_21974681) c.(148_147) p.Q50fs RefSeq GRCh38/hg38
NM_001195132 chr9:g.(21974680_21974681) c.(148_147) p.Q50fs RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.(21974680_21974681) c.(148_147) p.Q50fs RefSeq GRCh38/hg38
NM_000077.4 chr9:g.(21974680_21974681) c.(148_147) p.Q50fs RefSeq GRCh38/hg38
NM_058197.4 chr9:g.(21974680_21974681) c.(148_147) p.Q50fs RefSeq GRCh38/hg38
NM_058197 chr9:g.(21974680_21974681) c.(148_147) p.Q50fs RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.(21974680_21974681) c.(148_147) p.Q50fs RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21974680_21974681) c.(148_147) p.Q50fs RefSeq GRCh38/hg38
NM_058197.5 chr9:g.(21974680_21974681) c.(148_147) p.Q50fs RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.(21974680_21974681) c.(148_147) p.Q50fs RefSeq GRCh38/hg38
XM_011517675 chr9:g.(21974680_21974681) c.(148_147) p.Q50fs RefSeq GRCh38/hg38
NM_000077 chr9:g.(21974680_21974681) c.(148_147) p.Q50fs RefSeq GRCh38/hg38

Filtering

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  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries