Gene Variant Detail

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Gene APC
Variant Q1127*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions APC Q1127* results in a premature truncation of the Apc protein at amino acid 1127 of 2843 (UniProt.org). Q1127* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1127 (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 Q1127*

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Transcript NM_000038.6
gDNA chr5:g.112838973C>T
cDNA c.3379C>T
Protein p.Q1127*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354895.1 chr5:g.112838973C>T c.3379C>T p.Q1127* RefSeq GRCh38/hg38
NM_001407467.1 chr5:g.112839360C>T c.3379C>T p.Q1127* RefSeq GRCh38/hg38
NM_000038 chr5:g.112838973C>T c.3379C>T p.Q1127* RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112838973C>T c.3379C>T p.Q1127* RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112838973C>T c.3379C>T p.Q1127* RefSeq GRCh38/hg38
NM_001354898.1 chr5:g.112839048C>T c.3379C>T p.Q1127* RefSeq GRCh38/hg38
NM_001407460.1 chr5:g.112839276C>T c.3379C>T p.Q1127* RefSeq GRCh38/hg38
NM_001407469.1 chr5:g.112839360C>T c.3379C>T p.Q1127* RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112838973C>T c.3379C>T p.Q1127* RefSeq GRCh38/hg38
NM_001354903.1 chr5:g.112839276C>T c.3379C>T p.Q1127* RefSeq GRCh38/hg38
NM_001407458.1 chr5:g.112839276C>T c.3379C>T p.Q1127* RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112838973C>T c.3379C>T p.Q1127* RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112838973C>T c.3379C>T p.Q1127* RefSeq GRCh38/hg38
NM_001354903.2 chr5:g.112839276C>T c.3379C>T p.Q1127* RefSeq GRCh38/hg38
NM_001127510 chr5:g.112838973C>T c.3379C>T p.Q1127* RefSeq GRCh38/hg38
NM_001354898.2 chr5:g.112839048C>T c.3379C>T p.Q1127* RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112838973C>T c.3379C>T p.Q1127* RefSeq GRCh38/hg38
NM_001407459.1 chr5:g.112839276C>T c.3379C>T p.Q1127* RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries