SWISSVAR
Home  |  Contact

1 protein found in SwissVar (5 variants)

with gene/protein name Q86TP1

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
Q86TP1 PRUN1_HUMAN neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies p.Asp30Asn
p.Pro54Thr
p.Asp106Asn
p.Arg128Gln
p.Arg297Trp