PLVAP Chromosome 19
Plasmalemma vesicle associated protein
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What This Gene Does
Predicted to enable identical protein binding activity. Involved in MAPK cascade; positive regulation of cellular extravasation; and tumor necrosis factor-mediated signaling pathway. Located in caveola and cell surface. Implicated in congenital diarrhea. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (5)
PLVAP-related disorder
Inborn genetic diseases
Diarrhea 10
protein-losing enteropathy type
See cases
Key Variants
RS142500391
Conflicting classifications of pathogenicity
PLVAP-related disorder, PLVAP-related disorder
Health Risk
RS202200013
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS36074897
Conflicting classifications of pathogenicity
PLVAP-related disorder, Inborn genetic diseases, PLVAP-related disorder
Health Risk
RS2513228819
Likely pathogenic
Diarrhea 10, protein-losing enteropathy type, Diarrhea 10
Health Risk
RS2513229473
Likely pathogenic
See cases, See cases
Health Risk
RS1459313694
Pathogenic
Health Risk
RS1568378665
Pathogenic
Diarrhea 10, protein-losing enteropathy type, Diarrhea 10
Health Risk
RS199712527
Pathogenic
Diarrhea 10, protein-losing enteropathy type, Diarrhea 10
Health Risk
RS2513229533
Pathogenic
Health Risk
RS761158492
Pathogenic
Diarrhea 10, protein-losing enteropathy type, Diarrhea 10
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142500391 | Health Risk | Conflicting classifications of pathogenicity | PLVAP-related disorder, PLVAP-related disorder |
| RS202200013 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS36074897 | Health Risk | Conflicting classifications of pathogenicity | PLVAP-related disorder, Inborn genetic diseases, PLVAP-related disorder |
| RS2513228819 | Health Risk | Likely pathogenic | Diarrhea 10, protein-losing enteropathy type, Diarrhea 10 |
| RS2513229473 | Health Risk | Likely pathogenic | See cases, See cases |
| RS1459313694 | Health Risk | Pathogenic | — |
| RS1568378665 | Health Risk | Pathogenic | Diarrhea 10, protein-losing enteropathy type, Diarrhea 10 |
| RS199712527 | Health Risk | Pathogenic | Diarrhea 10, protein-losing enteropathy type, Diarrhea 10 |
| RS2513229533 | Health Risk | Pathogenic | — |
| RS761158492 | Health Risk | Pathogenic | Diarrhea 10, protein-losing enteropathy type, Diarrhea 10 |