Gene Variant Detail

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Gene APC
Variant S1421Rfs*52
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC S1421Rfs*52 indicates a shift in the reading frame starting at amino acid 1421 and terminating 52 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). S1421Rfs*52 has not been characterized, however, due to the effects of other truncation mutations downstream of S1421 (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 S1421Rfs*52

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Transcript NM_000038.6
gDNA chr5:g.112839857delT
cDNA c.4263delT
Protein p.S1421Rfs*52
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354896.2 chr5:g.(112839801_112839959) c.(4261_4419) p.S1421Rfs*52 RefSeq GRCh38/hg38
NM_001407454.1 chr5:g.(112840104_112840262) c.(4261_4419) p.S1421Rfs*52 RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839857delT c.4263delT p.S1421Rfs*52 RefSeq GRCh38/hg38
NM_001407455.1 chr5:g.(112840104_112840262) c.(4261_4419) p.S1421Rfs*52 RefSeq GRCh38/hg38
NM_001407447.1 chr5:g.(112839801_112839959) c.(4261_4419) p.S1421Rfs*52 RefSeq GRCh38/hg38
NM_001354897.2 chr5:g.(112839825_112839983) c.(4261_4419) p.S1421Rfs*52 RefSeq GRCh38/hg38
NM_001354905.2 chr5:g.(112840335_112840493) c.(4261_4419) p.S1421Rfs*52 RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839857delT c.4263delT p.S1421Rfs*52 RefSeq GRCh38/hg38
NM_001407456.1 chr5:g.(112840104_112840262) c.(4261_4419) p.S1421Rfs*52 RefSeq GRCh38/hg38
NM_001407448.1 chr5:g.(112839801_112839959) c.(4261_4419) p.S1421Rfs*52 RefSeq GRCh38/hg38
NM_001407457.1 chr5:g.(112840104_112840262) c.(4261_4419) p.S1421Rfs*52 RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839857delT c.4263delT p.S1421Rfs*52 RefSeq GRCh38/hg38
NM_001407449.1 chr5:g.(112839801_112839959) c.(4261_4419) p.S1421Rfs*52 RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839857delT c.4263delT p.S1421Rfs*52 RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries