Gene Variant Detail

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Gene CDKN2A
Variant R99Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A R99Q lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). R99Q results in decreased suppression of IL3-independent growth in BCR-ABL1-expressing cells in culture (PMID: 34369425), but has not been individually characterized and therefore, its effect on Cdkn2a protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A R99Q

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Transcript NM_000077.5
gDNA chr9:g.21971063C>T
cDNA c.296G>A
Protein p.R99Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195132.1 chr9:g.21971063C>T c.296G>A p.R99Q RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971063C>T c.296G>A p.R99Q RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971063C>T c.296G>A p.R99Q RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971063C>T c.296G>A p.R99Q RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971063C>T c.296G>A p.R99Q RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971063C>T c.296G>A p.R99Q RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971063C>T c.296G>A p.R99Q RefSeq GRCh38/hg38
NM_058195.4 chr9:g.21971105_21971106delGCinsAA c.296_297delGCinsAA p.R99Q RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971063C>T c.296G>A p.R99Q 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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References