Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | CDKN2A |
Variant | S43Ifs*76 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CDKN2A S43Ifs*76 indicates a shift in the reading frame starting at amino acid 43 and terminating 76 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). S43Ifs*76 has not been characterized, however, due to the effects of other truncation mutations downstream of S43 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A S43fs CDKN2A S43Ifs*76 |
Transcript | NM_000077.5 |
gDNA | chr9:g.21974699_21974700delAC |
cDNA | c.128_129delGT |
Protein | p.S43Ifs*76 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011517675.3 | chr9:g.21974699_21974700delAC | c.128_129delGT | p.S43Ifs*76 | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21974699_21974700delAC | c.128_129delGT | p.S43Ifs*76 | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21974699_21974700delAC | c.128_129delGT | p.S43Ifs*76 | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21974699_21974700delAC | c.128_129delGT | p.S43Ifs*76 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|