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 | APC |
Variant | D1003N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC D1003N lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). D1003N has been identified in sequencing studies (PMID: 25545608, PMID: 23085758), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC D1003N |
Transcript | NM_000038.6 |
gDNA | chr5:g.112838601G>A |
cDNA | c.3007G>A |
Protein | p.D1003N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127510.2 | chr5:g.112838601G>A | c.3007G>A | p.D1003N | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112838601G>A | c.3007G>A | p.D1003N | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112838601G>A | c.3007G>A | p.D1003N | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112838601G>A | c.3007G>A | p.D1003N | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112838601G>A | c.3007G>A | p.D1003N | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112838601G>A | c.3007G>A | p.D1003N | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112838601G>A | c.3007G>A | p.D1003N | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112838601G>A | c.3007G>A | p.D1003N | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112838601G>A | c.3007G>A | p.D1003N | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|