Varaico: Literature-Extracted Genetic Variants

VPS33A

77 papers

RefSeq Summary

This gene encodes a tethering protein and a core subunit of the homotypic fusion and protein sorting (HOPS) complex. The HOPS complex and a second endosomal tethering complex called the class C core v...

Pfam Domains

Sec1aa 34–180UCSCSec1 family

Sec1aa 34–590UCSCSec1 family

Gene Aliases

HGNC Name

VPS33A core subunit of CORVET and HOPS complexes

HGNC Previous Names

vacuolar protein sorting 33A (yeast); vacuolar protein sorting 33 homolog A (S. cerevisiae); VPS33A, CORVET/HOPS core subunit

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022916.6

p.S486L

c.1457C>T

Surrounding Variants

1 paper

NM_022916.6

p.I485V

c.1453A>G

26 papers

NM_022916.6

p.R498W

c.1492C>T

1 paper

NM_022916.6

p.R498P

c.1493G>C

1 paper

NM_022916.6

p.L502P

c.1505T>C

1 paper

NM_022916.6

p.E513G

c.1538A>G

1 paper

NM_022916.6

p.R516H

c.1547G>A

1 paper

NM_022916.6

p.G520W

c.1558G>T

1 paper

NM_022916.6

p.I547V

c.1639A>G

1 paper

NM_022916.6

p.G551R

c.1651G>A

1 paper

NM_022916.6

p.G551E

c.1652G>A

1 paper

NM_022916.6

p.T554N

c.1661C>A

1 paper

NM_022916.6

p.I558T

c.1673T>C