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Gene CDKN2A
Variant A127S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A A127S lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). A127S results in decreased suppression of IL3-independent growth in BCR-ABL1-expressing cells in culture (PMID: 34369425), but binding to Cdk4/6 and induction of growth arrest similar to wild-type Cdkn2a in culture (PMID: 10498896), and therefore, its effect on Cdkn2a protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A A127S

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Transcript NM_000077.5
gDNA chr9:g.21970980C>A
cDNA c.379G>T
Protein p.A127S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195132.2 chr9:g.21970980C>A c.379G>T p.A127S RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21970980C>A c.379G>T p.A127S RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21970980C>A c.379G>T p.A127S RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21970980C>A c.379G>T p.A127S RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21970980C>A c.379G>T p.A127S RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21970980C>A c.379G>T p.A127S RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21970980C>A c.379G>T p.A127S RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21970980C>A c.379G>T p.A127S RefSeq GRCh38/hg38

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  • 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References