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Gene | APC |
Variant | K1363Rfs*10 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC K1363Rfs*10 indicates a shift in the reading frame starting at amino acid 1363 and terminating 10 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). K1363Rfs*10 has not been characterized, however, due to the effects of other truncation mutations downstream of K1363 (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 K1363Rfs*10 |
Transcript | NM_000038.6 |
gDNA | chr5:g.112839681_112839682insGCCCCCCCCCCCCCCCCCCCCCCCCAT |
cDNA | c.4087_4088insGCCCCCCCCCCCCCCCCCCCCCCCCAT |
Protein | p.K1363Rfs*10 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354895.2 | chr5:g.112839681_112839682insGCCCCCCCCCCCCCCCCCCCCCCCCAT | c.4087_4088insGCCCCCCCCCCCCCCCCCCCCCCCCAT | p.K1363Rfs*10 | RefSeq | GRCh38/hg38 |
NM_001354902.1 | chr5:g.112839954_112839955insGCCCCCCCCCCCCCCCCCCAAA | c.4087_4088insGCCCCCCCCCCCCCCCCCCAAA | p.K1363Rfs*10 | RefSeq | GRCh38/hg38 |
NM_001407451.1 | chr5:g.112839702_112839703insGCCCCCCCCCCCCAAA | c.4087_4088insGCCCCCCCCCCCCAAA | p.K1363Rfs*10 | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112839681_112839682insGCCCCCCCCCCCCCCCCCCCCCCCCGT | c.4087_4088insGCCCCCCCCCCCCCCCCCCCCCCCCGT | p.K1363Rfs*10 | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112839681_112839682insGCCCCCCCCCCCCCCCCCCCCCCCCGT | c.4087_4088insGCCCCCCCCCCCCCCCCCCCCCCCCGT | p.K1363Rfs*10 | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112839681_112839682insGCCCCCCCCCCCCCCCCCCCCCCCCAT | c.4087_4088insGCCCCCCCCCCCCCCCCCCCCCCCCAT | p.K1363Rfs*10 | RefSeq | GRCh38/hg38 |
NM_001354902.2 | chr5:g.112839954_112839955insGCCCCCCCCCCCCCCCCCCAAA | c.4087_4088insGCCCCCCCCCCCCCCCCCCAAA | p.K1363Rfs*10 | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112839681_112839682insGCCCCCCCCCCCCCCCCCCCCCCCCAT | c.4087_4088insGCCCCCCCCCCCCCCCCCCCCCCCCAT | p.K1363Rfs*10 | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112839681_112839682insGCCCCCCCCCCCCCCCCCCCCCCCCAT | c.4087_4088insGCCCCCCCCCCCCCCCCCCCCCCCCAT | p.K1363Rfs*10 | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112839681_112839682insGCCCCCCCCCCCCCCCCCCCCCCCCAT | c.4087_4088insGCCCCCCCCCCCCCCCCCCCCCCCCAT | p.K1363Rfs*10 | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112839681_112839682insGCCCCCCCCCCCCCCCCCCCCCCCCAT | c.4087_4088insGCCCCCCCCCCCCCCCCCCCCCCCCAT | p.K1363Rfs*10 | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112839681_112839682insGCCCCCCCCCCCCCCCCCCCCCCCCAT | c.4087_4088insGCCCCCCCCCCCCCCCCCCCCCCCCAT | p.K1363Rfs*10 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC K1363Rfs*10 | loss of function - predicted | CTNNB1 Inhibitor Tankyrase Inhibitor |