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Gene | CDKN2A |
Variant | A143T |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | CDKN2A A143T does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). A143T results in proliferation and cell cycle inhibition similar to wild-type Cdkn2a in culture (PMID: 35001868) and suppresses IL3-independent growth similar to wild-type Cdkn2a in BCR-ABL1-expressing cells in culture (PMID: 34369425), and therefore, is predicted to have no effect on Cdkn2a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A A143T |
Transcript | NM_000077.5 |
gDNA | chr9:g.21970932C>T |
cDNA | c.427G>A |
Protein | p.A143T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001195132.2 | chr9:g.21970932C>T | c.427G>A | p.A143T | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21970932C>T | c.427G>A | p.A143T | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21970932C>T | c.427G>A | p.A143T | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21970932C>T | c.427G>A | p.A143T | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21970932C>T | c.427G>A | p.A143T | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21970932C>T | c.427G>A | p.A143T | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21970932C>T | c.427G>A | p.A143T | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21970932C>T | c.427G>A | p.A143T | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CDKN2A A143T | no effect - predicted |