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Gene CDKN2A
Variant H142R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A H142R does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). H142R results in Cdk4 and Rb phosphorylation similar to wild-type Cdkn2a but decreased suppression of IL3-independent growth of BCR-ABL1-expressing cells in culture (PMID: 34369425), and therefore, its effect on Cdkn2a protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A H142R

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Transcript NM_000077.5
gDNA chr9:g.21970934T>C
cDNA c.425A>G
Protein p.H142R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000077.4 chr9:g.21970934T>C c.425A>G p.H142R RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21970934T>C c.425A>G p.H142R RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21970934T>C c.425A>G p.H142R RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21970934T>C c.425A>G p.H142R RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21970934T>C c.425A>G p.H142R RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21970934T>C c.425A>G p.H142R RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21970934T>C c.425A>G p.H142R RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21970934T>C c.425A>G p.H142R RefSeq GRCh38/hg38

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  • 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CDKN2A H142R B-cell acute lymphoblastic leukemia sensitive Palbociclib Preclinical - Cell culture Actionable In a preclinical study, Ibrance (palbociclib) treatment inhibited viability of a B-cell acute lymphoblastic leukemia cell line expressing CDKN2A H142R in culture (PMID: 34369425). 34369425