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Gene | APC |
Variant | I1307K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC I1307K lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). I1307K has been associated with somatic instability of the APC gene in patient samples (PMID: 9724771, PMID: 24416237), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC I1307K |
Transcript | NM_000038.6 |
gDNA | chr5:g.112839514T>A |
cDNA | c.3920T>A |
Protein | p.I1307K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354895.2 | chr5:g.112839514T>A | c.3920T>A | p.I1307K | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112839514T>A | c.3920T>A | p.I1307K | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112839514T>A | c.3920T>A | p.I1307K | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112839514T>A | c.3920T>A | p.I1307K | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112839514T>A | c.3920T>A | p.I1307K | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112839514T>A | c.3920T>A | p.I1307K | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112839514T>A | c.3920T>A | p.I1307K | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112839514T>A | c.3920T>A | p.I1307K | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112839514T>A | c.3920T>A | p.I1307K | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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