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Gene | CDKN2A |
Variant | D74F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A D74F does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D74F has been identified in sequencing studies (PMID: 32699558), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A D74F |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971138_21971139delGAinsTT |
cDNA | c.220_221delGAinsTT |
Protein | p.D74F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001363763.2 | chr9:g.21970985_21970986delGAinsTT | c.220_221delGAinsTT | p.D74F | RefSeq | GRCh38/hg38 |
XM_047422596.1 | chr9:g.21970985_21970986delGAinsTT | c.220_221delGAinsTT | p.D74F | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21971138_21971139delGAinsTT | c.220_221delGAinsTT | p.D74F | RefSeq | GRCh38/hg38 |
XM_047422598.1 | chr9:g.21970985_21970986delGAinsTT | c.220_221delGAinsTT | p.D74F | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21971138_21971139delGAinsTT | c.220_221delGAinsTT | p.D74F | RefSeq | GRCh38/hg38 |
XM_047422597.1 | chr9:g.21970985_21970986delGAinsTT | c.220_221delGAinsTT | p.D74F | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21971138_21971139delGAinsTT | c.220_221delGAinsTT | p.D74F | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21971138_21971139delGAinsTT | c.220_221delGAinsTT | p.D74F | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21971138_21971139delGAinsTT | c.220_221delGAinsTT | p.D74F | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21971138_21971139delGAinsTT | c.220_221delGAinsTT | p.D74F | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21971138_21971139delGAinsTT | c.220_221delGAinsTT | p.D74F | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21971138_21971139delGAinsTT | c.220_221delGAinsTT | p.D74F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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