Gene Variant Detail

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Gene APC
Variant T1301Pfs*4
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC T1301Pfs*4 indicates a shift in the reading frame starting at amino acid 1301 and terminating 4 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). T1301Pfs*4 has not been characterized, however, due to the effects of other truncation mutations downstream of T1301 (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 T1301fs APC T1301Pfs*4

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Transcript NM_000038.6
gDNA chr5:g.112839495delA
cDNA c.3901delA
Protein p.T1301Pfs*4
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510 chr5:g.112839495delA c.3901delA p.T1301Pfs*4 RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839495delA c.3901delA p.T1301Pfs*4 RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839495delA c.3901delA p.T1301Pfs*4 RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839495delA c.3901delA p.T1301Pfs*4 RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839495delA c.3901delA p.T1301Pfs*4 RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839495delA c.3901delA p.T1301Pfs*4 RefSeq GRCh38/hg38
NM_001407469.1 chr5:g.112839881_112839882insCCCCCCCCATA c.3900_3901insCCCCCCCCATA p.T1301Pfs*4 RefSeq GRCh38/hg38
NM_000038 chr5:g.112839495delA c.3901delA p.T1301Pfs*4 RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839495delA c.3901delA p.T1301Pfs*4 RefSeq GRCh38/hg38
NM_001407467.1 chr5:g.112839881_112839882insCCCCCCCCATA c.3900_3901insCCCCCCCCATA p.T1301Pfs*4 RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839495delA c.3901delA p.T1301Pfs*4 RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References