rs771680538

This variant is located in the PLVAP gene.

▶

ClinVar annotation

Uncertain Significance★★★☆

3 submitters2 publications

not provided; Inborn genetic diseases; Diarrhea 10, protein-losing enteropathy type

About PLVAP

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]

View all PLVAP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…