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Gene | APC |
Variant | R2204* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | APC R2204* results in a premature truncation of the Apc protein at amino acid 2204 of 2843 (UniProt.org). R2204* has been identified in sequencing studies (PMID: 26681737, PMID: 31127692), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC R2204* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112842204C>T |
cDNA | c.6610C>T |
Protein | p.R2204* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127510.2 | chr5:g.112842204C>T | c.6610C>T | p.R2204* | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112842204C>T | c.6610C>T | p.R2204* | RefSeq | GRCh38/hg38 |
NM_001407456.1 | chr5:g.112842453_112842454delAGinsTA | c.6610_6611delAGinsTA | p.R2204* | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112842204C>T | c.6610C>T | p.R2204* | RefSeq | GRCh38/hg38 |
NM_001354903.2 | chr5:g.112842507A>T | c.6610A>T | p.R2204* | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112842204C>T | c.6610C>T | p.R2204* | RefSeq | GRCh38/hg38 |
NM_001407459.1 | chr5:g.112842507A>T | c.6610A>T | p.R2204* | RefSeq | GRCh38/hg38 |
NM_001407455.1 | chr5:g.112842453_112842454delAGinsTA | c.6610_6611delAGinsTA | p.R2204* | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112842204C>T | c.6610C>T | p.R2204* | RefSeq | GRCh38/hg38 |
NM_001407460.1 | chr5:g.112842507A>T | c.6610A>T | p.R2204* | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112842204C>T | c.6610C>T | p.R2204* | RefSeq | GRCh38/hg38 |
NM_001407469.1 | chr5:g.112842591A>T | c.6610A>T | p.R2204* | RefSeq | GRCh38/hg38 |
NM_001407457.1 | chr5:g.112842453_112842454delAGinsTA | c.6610_6611delAGinsTA | p.R2204* | RefSeq | GRCh38/hg38 |
NM_001407458.1 | chr5:g.112842507A>T | c.6610A>T | p.R2204* | RefSeq | GRCh38/hg38 |
NM_001407454.1 | chr5:g.112842453_112842454delAGinsTA | c.6610_6611delAGinsTA | p.R2204* | RefSeq | GRCh38/hg38 |
NM_001407467.1 | chr5:g.112842591A>T | c.6610A>T | p.R2204* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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