CDKN2A D108Y
Gene Variant Detail

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Gene CDKN2A
Variant D108Y
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A D108Y does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D108Y results in loss of cell cycle control in culture (PMID: 12606942), and therefore, is predicted to lead to a loss of Cdkn2a protein function.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A D108Y

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Transcript NM_000077.5
gDNA chr9:g.21971037C>A
cDNA c.322G>T
Protein p.D108Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517676 chr9:g.21971037C>A c.322G>T p.D108Y RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971037C>A c.322G>T p.D108Y RefSeq GRCh38/hg38
NM_000077 chr9:g.21971037C>A c.322G>T p.D108Y RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971037C>A c.322G>T p.D108Y RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971037C>A c.322G>T p.D108Y RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971037C>A c.322G>T p.D108Y RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971037C>A c.322G>T p.D108Y RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971037C>A c.322G>T p.D108Y RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971037C>A c.322G>T p.D108Y RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971037C>A c.322G>T p.D108Y RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971037C>A c.322G>T p.D108Y RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971037C>A c.322G>T p.D108Y 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
CDKN2A D108Y loss of function - predicted