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 | R99W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC R99W does not lie within any known functional domains of the Apc protein (UniProt.org). R99W has been identified in sequencing studies (PMID: 34646395, PMID: 36013219), 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 R99W |
Transcript | NM_000038.6 |
gDNA | chr5:g.112767263C>T |
cDNA | c.295C>T |
Protein | p.R99W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407455.1 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001354899.2 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001354906.2 | chr5:g.112819176A>T | c.295A>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001354903.1 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001354903.2 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001407470.1 | chr5:g.112819176A>T | c.295A>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001407449.1 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001354896.2 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001407458.1 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001407454.1 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001354899.1 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001407469.1 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001407447.1 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001407452.1 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001407456.1 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001407457.1 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001407459.1 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001407467.1 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001407460.1 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001354896.1 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
NM_001407448.1 | chr5:g.112767263C>T | c.295C>T | p.R99W | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|