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Gene | CDKN2A |
Variant | A21V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A A21V lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). A21V suppresses IL3-independent growth similar to wild-type Cdkn2a in the context of 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 A21V |
Transcript | NM_000077.5 |
gDNA | chr9:g.21974766G>A |
cDNA | c.62C>T |
Protein | p.A21V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_058197.5 | chr9:g.21974766G>A | c.62C>T | p.A21V | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21974766G>A | c.62C>T | p.A21V | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21974766G>A | c.62C>T | p.A21V | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21974766G>A | c.62C>T | p.A21V | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21974766G>A | c.62C>T | p.A21V | RefSeq | GRCh38/hg38 |
NM_058197.4 | chr9:g.21974766G>A | c.62C>T | p.A21V | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21974766G>A | c.62C>T | p.A21V | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21974766G>A | c.62C>T | p.A21V | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21974766G>A | c.62C>T | p.A21V | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21974766G>A | c.62C>T | p.A21V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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