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 | G1339_S1340dup |
Impact List | duplication |
Protein Effect | unknown |
Gene Variant Descriptions | APC G1339_S1340dup indicates the insertion of two duplicate amino acids, glycine (G)-1339 through serine (S)-1340, in the Apc protein (UniProt.org). G1339_S1340dup has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC G1339_S1340dup |
Transcript | NM_000038.6 |
gDNA | chr5:g.112839609_112839614 |
cDNA | c.4015_4020 |
Protein | p.G1339_S1340 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038.5 | chr5:g.112839609_112839614 | c.4015_4020 | p.G1339_S1340 | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112839609_112839614 | c.4015_4020 | p.G1339_S1340 | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112839609_112839614 | c.4015_4020 | p.G1339_S1340 | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112839609_112839614 | c.4015_4020 | p.G1339_S1340 | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112839609_112839614 | c.4015_4020 | p.G1339_S1340 | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112839609_112839614 | c.4015_4020 | p.G1339_S1340 | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112839609_112839614 | c.4015_4020 | p.G1339_S1340 | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112839609_112839614 | c.4015_4020 | p.G1339_S1340 | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112839609_112839614 | c.4015_4020 | p.G1339_S1340 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|