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Gene APC
Variant D1422fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC D1422fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1422 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1422fs has not been characterized, however, due to the effects of other truncation mutations downstream of D1422 (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 D1422fs

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Transcript NM_000038.6
gDNA chr5:g.(112839857_112839858)
cDNA c.(4264_4263)
Protein p.D1422fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510.2 chr5:g.(112839857_112839858) c.(4264_4263) p.D1422fs RefSeq GRCh38/hg38
NM_001407446.1 chr5:g.(112839773_112839774) c.(4264_4263) p.D1422fs RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.(112839857_112839858) c.(4264_4263) p.D1422fs RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.(112839857_112839858) c.(4264_4263) p.D1422fs RefSeq GRCh38/hg38
NM_000038.6 chr5:g.(112839857_112839858) c.(4264_4263) p.D1422fs RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.(112839857_112839858) c.(4264_4263) p.D1422fs RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.(112839857_112839858) c.(4264_4263) p.D1422fs RefSeq GRCh38/hg38
NM_000038 chr5:g.(112839857_112839858) c.(4264_4263) p.D1422fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112839857_112839858) c.(4264_4263) p.D1422fs RefSeq GRCh38/hg38
NM_000038.5 chr5:g.(112839857_112839858) c.(4264_4263) p.D1422fs RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries