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Gene | APC |
Variant | S837* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC S837* results in a premature truncation of the Apc protein at amino acid 837 of 2843 (UniProt.org). S837* has not been characterized, however, due to the effects of other truncation mutations downstream of S837 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC inact mut APC S837* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112838104C>A |
cDNA | c.2510C>A |
Protein | p.S837* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038.5 | chr5:g.112838104C>A | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112838104C>A | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112838104C>A | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112838104C>A | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112838104C>A | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112838104C>A | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
NM_001407467.1 | chr5:g.112838490_112838492delAGTinsTGA | c.2509_2511delAGTinsTGA | p.S837* | RefSeq | GRCh38/hg38 |
NM_001407469.1 | chr5:g.112838490_112838492delAGTinsTGA | c.2509_2511delAGTinsTGA | p.S837* | RefSeq | GRCh38/hg38 |
NM_001407451.1 | chr5:g.112838125_112838126delCTinsAA | c.2510_2511delCTinsAA | p.S837* | RefSeq | GRCh38/hg38 |
NM_001354904.2 | chr5:g.112838481_112838483delAGTinsTGA | c.2509_2511delAGTinsTGA | p.S837* | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112838104C>A | c.2510C>A | p.S837* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC S837* | loss of function - predicted | CTNNB1 Inhibitor Tankyrase Inhibitor |