Gene Variant Detail

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Gene CDKN2A
Variant Y44fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A Y44fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 44 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). Y44fs has not been characterized, however, due to the effects of other truncation mutations downstream of Y44 (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 Y44fs

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Transcript NM_000077.5
gDNA chr9:g.(21974698_21974699)
cDNA c.(130_129)
Protein p.Y44fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517676.2 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
NM_000077.4 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
XM_011517675 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
NM_000077 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
NM_058197.5 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
NM_058197.4 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
NM_058197 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
NM_001195132 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
XM_011517676 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries