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Gene | APC |
Variant | E129Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC E129Q lies within a coiled-coil domain of the Apc protein (UniProt.org). E129Q has been identified in sequencing studies (PMID: 24728327, PMID: 31703593), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022). |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC E129Q |
Transcript | NM_000038.5 |
gDNA | chr5:g.112767353G>C |
cDNA | c.385G>C |
Protein | p.E129Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038.5 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001354903.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001354899.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001354898.1 | chr5:g.112775666G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001354904.1 | chr5:g.112775666G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001354896.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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