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 | Q1406* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC Q1406* results in a premature truncation of the Apc protein at amino acid 1406 of 2843 (UniProt.org). Q1406* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1406 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC inact mut APC Q1406* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112839810C>T |
cDNA | c.4216C>T |
Protein | p.Q1406* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038.6 | chr5:g.112839810C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112839810C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112839810C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_001407446.1 | chr5:g.112839726C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112839810C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112839810C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112839810C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_001354900.1 | chr5:g.112839933C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112839810C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112839810C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112839810C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_001354900.2 | chr5:g.112839933C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC Q1406* | loss of function - predicted | CTNNB1 Inhibitor Tankyrase Inhibitor |