Gene Variant Detail

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Gene CDKN2A
Variant A76T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A A76T does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). A76T has been identified in sequencing studies (PMID: 31004019, PMID: 26164066), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Nov 2019).
Associated Drug Resistance

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Transcript NM_000077
gDNA chr9:g.21971133C>T
cDNA c.226G>A
Protein p.A76T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195132 chr9:g.21971133C>T c.226G>A p.A76T RefSeq GRCh38/hg38
XM_011517679 chr9:g.21970980C>T c.226G>A p.A76T RefSeq GRCh38/hg38
NM_000077 chr9:g.21971133C>T c.226G>A p.A76T RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971133C>T c.226G>A p.A76T RefSeq GRCh38/hg38
NM_058195 chr9:g.21971176C>T c.226G>A p.A76T RefSeq GRCh38/hg38
XM_005251343 chr9:g.21970980C>T c.226G>A p.A76T RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971133C>T c.226G>A p.A76T RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Protein Effect Treatment Approaches
CDKN2A A76T unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References