PHACTR1 Chromosome 6
Phosphatase and actin regulator 1
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What This Gene Does
The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
Phosphatase and actin regulators
Locus Type
gene with protein product
Location
6p24.1
Ensembl
ENSG00000112137
Associated Conditions (3)
Developmental and epileptic encephalopathy
70
Colon adenocarcinoma
Key Variants
RS371212952
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 70, Colon adenocarcinoma
Health Risk
RS1273417376
Likely pathogenic
Developmental and epileptic encephalopathy, 70, Developmental and epileptic encephalopathy
Health Risk
RS2546854717
Likely pathogenic
Developmental and epileptic encephalopathy, 70, Developmental and epileptic encephalopathy
Health Risk
RS868040089
Likely pathogenic
Developmental and epileptic encephalopathy, 70, Developmental and epileptic encephalopathy
Health Risk
RS1562103192
Pathogenic
Developmental and epileptic encephalopathy, 70, Developmental and epileptic encephalopathy
Health Risk
RS1562114406
Pathogenic
Developmental and epileptic encephalopathy, 70, Developmental and epileptic encephalopathy
Health Risk
RS2127450867
Pathogenic
Developmental and epileptic encephalopathy, 70, Developmental and epileptic encephalopathy
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS371212952 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 70, Colon adenocarcinoma |
| RS1273417376 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 70, Developmental and epileptic encephalopathy |
| RS2546854717 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 70, Developmental and epileptic encephalopathy |
| RS868040089 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 70, Developmental and epileptic encephalopathy |
| RS1562103192 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 70, Developmental and epileptic encephalopathy |
| RS1562114406 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 70, Developmental and epileptic encephalopathy |
| RS2127450867 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 70, Developmental and epileptic encephalopathy |