TRAK1 Chromosome 3
Trafficking kinesin protein 1
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What This Gene Does
Predicted to enable GABA receptor binding activity and myosin binding activity. Involved in endosome to lysosome transport. Located in early endosome and mitochondrion. Implicated in developmental and epileptic encephalopathy 68. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (4)
Inborn genetic diseases
Developmental and epileptic encephalopathy
68
Uterine corpus endometrial carcinoma
Key Variants
RS145279682
Conflicting classifications of pathogenicity
Health Risk
RS145303759
Conflicting classifications of pathogenicity
Health Risk
RS1553608726
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1559877920
Pathogenic
Developmental and epileptic encephalopathy, 68, Developmental and epileptic encephalopathy
Health Risk
RS2149140090
Pathogenic
Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
Health Risk
RS1559390743
Pathogenic/Likely pathogenic
Developmental and epileptic encephalopathy, 68, Developmental and epileptic encephalopathy
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145279682 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145303759 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1553608726 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1559877920 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 68, Developmental and epileptic encephalopathy |
| RS2149140090 | Health Risk | Pathogenic | Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma |
| RS1559390743 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 68, Developmental and epileptic encephalopathy |