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Gene | CDKN2A |
Variant | V28_E33del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A V28_E33del results in the deletion of six amino acids in ANK repeat 1 of the Cdkn2a protein from amino acids 28 to 33 (UniProt.org). V28_E33del has been identified in the scientific literature (PMID: 36628896), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A V28_E33del |
Transcript | NM_000077.5 |
gDNA | chr9:g.21974733_21974750del18 |
cDNA | c.83_100del18 |
Protein | p.V28_E33delVRALLE |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011517676.2 | chr9:g.21974733_21974750del18 | c.83_100del18 | p.V28_E33del | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21974733_21974750del18 | c.83_100del18 | p.V28_E33del | RefSeq | GRCh38/hg38 |
NM_058197.4 | chr9:g.21974733_21974750del18 | c.83_100del18 | p.V28_E33del | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21974733_21974750del18 | c.83_100del18 | p.V28_E33del | RefSeq | GRCh38/hg38 |
NM_058195.4 | chr9:g.21994233_21994250del18 | c.82_99del18 | p.P28_E33delPRLTGE | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21974733_21974750del18 | c.83_100del18 | p.V28_E33del | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21974733_21974750del18 | c.83_100del18 | p.V28_E33delVRALLE | RefSeq | GRCh38/hg38 |
NM_058197.5 | chr9:g.21974733_21974750del18 | c.83_100del18 | p.V28_E33delVRALLE | RefSeq | GRCh38/hg38 |
XM_047422597.1 | chr9:g.21971108_21971125del18 | c.82_99del18 | p.T28_D33delTRPVHD | RefSeq | GRCh38/hg38 |
XM_047422596.1 | chr9:g.21971108_21971125del18 | c.82_99del18 | p.T28_D33delTRPVHD | RefSeq | GRCh38/hg38 |
XM_047422598.1 | chr9:g.21971108_21971125del18 | c.82_99del18 | p.T28_D33delTRPVHD | RefSeq | GRCh38/hg38 |
NM_001363763.2 | chr9:g.21971108_21971125del18 | c.82_99del18 | p.T28_D33delTRPVHD | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21974733_21974750del18 | c.83_100del18 | p.V28_E33delVRALLE | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21974733_21974750del18 | c.83_100del18 | p.V28_E33delVRALLE | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21974733_21974750del18 | c.83_100del18 | p.V28_E33delVRALLE | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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