Varaico: Literature-Extracted Genetic Variants

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

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

1–12 of 25 variants

2 papers

NM_016075.4

p.E117_F118Splc

c.352-1G>A

1 paper

NM_016075.4

p.R3H

c.8G>A

1 paper

NM_016075.4

p.A73T

c.217G>A

1 paper

NM_016075.4

p.G75E

c.224G>A

1 paper

NM_016075.4

p.H113R

c.338A>G

1 paper

NM_016075.4

p.L140*

c.419T>G

1 paper

NM_016075.4

p.L140*

c.419T>A

1 paper

NM_016075.4

p.K162R

c.485A>G

1 paper

NM_016075.4

p.R167delFs

c.499delT

1 paper

NM_016075.4

p.R167fs

c.499_500fs

1 paper

NM_016075.4

p.D171G

c.512A>G

1 paper

NM_016075.4

p.D204E

c.612C>G