Varaico: Literature-Extracted Genetic Variants

Gene:VPS36
Variant:p.R3H

VPS36

33 papers

RefSeq Summary

This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during...

Pfam Domains

Vps36_ESCRT-IIaa 2–88UCSCVacuolar protein sorting protein 36 Vps36
Vps36_ESCRT-IIaa 2–88UCSCVacuolar protein sorting protein 36 Vps36
EAP30aa 154–370UCSCEAP30/Vps36 family

Gene Aliases

HGNC Name

vacuolar protein sorting 36 homolog

HGNC Previous Symbol

C13orf9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016075.4
p.R3H
c.8G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."