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Gene APC
Variant R1348fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC R1348fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1348 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). R1348fs has not been characterized, however, due to the effects of other truncation mutations downstream of R1348 (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 R1348fs

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Transcript NM_000038.6
gDNA chr5:g.(112839635_112839636)
cDNA c.(4042_4041)
Protein p.R1348fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354895.1 chr5:g.(112839635_112839636) c.(4042_4041) p.R1348fs RefSeq GRCh38/hg38
NM_000038 chr5:g.(112839635_112839636) c.(4042_4041) p.R1348fs RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.(112839635_112839636) c.(4042_4041) p.R1348fs RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.(112839635_112839636) c.(4042_4041) p.R1348fs RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.(112839635_112839636) c.(4042_4041) p.R1348fs RefSeq GRCh38/hg38
NM_000038.5 chr5:g.(112839635_112839636) c.(4042_4041) p.R1348fs RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.(112839635_112839636) c.(4042_4041) p.R1348fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112839635_112839636) c.(4042_4041) p.R1348fs RefSeq GRCh38/hg38
NM_000038.6 chr5:g.(112839635_112839636) c.(4042_4041) p.R1348fs RefSeq GRCh38/hg38

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