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Gene CDKN2A
Variant N42fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A N42fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 42 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). N42fs has not been characterized, however, due to the effects of other truncation mutations downstream of N42 (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 N42fs

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Transcript NM_000077.5
gDNA chr9:g.(21974704_21974705)
cDNA c.(124_123)
Protein p.N42fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_058197.5 chr9:g.(21974704_21974705) c.(124_123) p.N42fs RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.(21974704_21974705) c.(124_123) p.N42fs RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.(21974704_21974705) c.(124_123) p.N42fs RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.(21974704_21974705) c.(124_123) p.N42fs RefSeq GRCh38/hg38
NM_000077 chr9:g.(21974704_21974705) c.(124_123) p.N42fs RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21974704_21974705) c.(124_123) p.N42fs RefSeq GRCh38/hg38
NM_001195132 chr9:g.(21974704_21974705) c.(124_123) p.N42fs RefSeq GRCh38/hg38
XM_011517676 chr9:g.(21974704_21974705) c.(124_123) p.N42fs RefSeq GRCh38/hg38
NM_058197 chr9:g.(21974704_21974705) c.(124_123) p.N42fs RefSeq GRCh38/hg38
XM_011517675 chr9:g.(21974704_21974705) c.(124_123) p.N42fs RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.(21974704_21974705) c.(124_123) p.N42fs RefSeq GRCh38/hg38
NM_058197.4 chr9:g.(21974704_21974705) c.(124_123) p.N42fs RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.(21974704_21974705) c.(124_123) p.N42fs RefSeq GRCh38/hg38
NM_000077.4 chr9:g.(21974704_21974705) c.(124_123) p.N42fs RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.(21974704_21974705) c.(124_123) p.N42fs RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • 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.

Molecular Profile Protein Effect Treatment Approaches
CDKN2A N42fs loss of function - predicted