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

9 papers

NM_022916.6

p.R200P

c.599G>C

Surrounding Variants

1 paper

NM_022916.6

p.C198C

c.594C>T

1 paper

NM_022916.6

p.G194V

c.581G>T

1 paper

NM_022916.6

p.G194R

c.580G>C

1 paper

NM_022916.6

p.G194R

c.580G>A

1 paper

NM_022916.6

p.M180I

c.540G>T

1 paper

NM_022916.6

p.G178E

c.533G>A

1 paper

NM_022916.6

p.G178R

c.532G>C

1 paper

NM_022916.6

p.G178R

c.532G>A

1 paper

NM_022916.6

p.L172M

c.514C>A

1 paper

NM_022916.6

p.T170K

c.509C>A

1 paper

NM_022916.6

p.L165P

c.494T>C

1 paper

NM_022916.6

p.C163Y

c.488G>A