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Gene | APC |
Variant | R283Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC R283Q does not lie within any known functional domains of the Apc protein (Uniprot.org). R283Q has been identified in sequencing studies (PMID: 34160418), 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 R283Q |
Transcript | NM_000038.6 |
gDNA | chr5:g.112815508G>A |
cDNA | c.848G>A |
Protein | p.R283Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407447.1 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
NM_001354903.2 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
NM_001407460.1 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
NM_001407449.1 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
NM_001407454.1 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
NM_001354896.1 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
NM_001407457.1 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
NM_001407448.1 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
NM_001407455.1 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
NM_001354896.2 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
NM_001407458.1 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
NM_001407456.1 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
NM_001354903.1 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
NM_001407459.1 | chr5:g.112815508G>A | c.848G>A | p.R283Q | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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