PARD3 Chromosome 10
Par-3 family cell polarity regulator
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What This Gene Does
This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|PDZ domain containing|Par-3 family cell polarity regulators"
Locus Type
gene with protein product
Location
10p11.22-p11.21
Ensembl
ENSG00000148498
Associated Conditions (1)
Neural tube defect
Key Variants
RS115076370
Conflicting classifications of pathogenicity
Health Risk
RS1114167354
Pathogenic
Neural tube defect, Neural tube defect
Health Risk
RS781461462
Pathogenic
Neural tube defect, Neural tube defect
Health Risk
RS557643577
risk factor
Neural tube defect, Neural tube defect
Health Risk
RS757259023
risk factor
Neural tube defect, Neural tube defect
Health Risk
RS762921297
risk factor
Neural tube defect, Neural tube defect
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115076370 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1114167354 | Health Risk | Pathogenic | Neural tube defect, Neural tube defect |
| RS781461462 | Health Risk | Pathogenic | Neural tube defect, Neural tube defect |
| RS557643577 | Health Risk | risk factor | Neural tube defect, Neural tube defect |
| RS757259023 | Health Risk | risk factor | Neural tube defect, Neural tube defect |
| RS762921297 | Health Risk | risk factor | Neural tube defect, Neural tube defect |