Gene Variant Detail

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Gene APC
Variant G1312fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC G1312fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1312 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). G1312fs has not been characterized, however, due to the effects of other truncation mutations downstream of G1312 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function.
Associated Drug Resistance
Category Variants Paths

APC mutant APC inact mut APC G1312fs

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Transcript NM_000038.5
gDNA chr5:g.(112839527_112839528)
cDNA c.(3934_3933)
Protein p.G1312fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510 chr5:g.(112839527_112839528) c.(3934_3933) p.G1312fs RefSeq GRCh38/hg38
NM_000038 chr5:g.(112839527_112839528) c.(3934_3933) p.G1312fs RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.(112839527_112839528) c.(3934_3933) p.G1312fs RefSeq GRCh38/hg38
NM_000038.5 chr5:g.(112839527_112839528) c.(3934_3933) p.G1312fs RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.(112839527_112839528) c.(3934_3933) p.G1312fs RefSeq GRCh38/hg38

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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