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.N258D

c.772A>G

Surrounding Variants

3 papers

NM_022916.6

p.I256L

c.766A>C

13 papers

NM_022916.6

p.D251E

c.753T>G

13 papers

NM_022916.6

p.D251E

c.753T>A

1 paper

NM_022916.6

p.D251N

c.751G>A

1 paper

NM_022916.6

p.Q243H

c.729G>T

1 paper

NM_022916.6

p.R232Q

c.695G>A

1 paper

NM_022916.6

p.L227R

c.680T>G

1 paper

NM_022916.6

p.S219*

c.656C>G

1 paper

NM_022916.6

p.S219*

c.656C>A

1 paper

NM_022916.6

p.M206R

c.617T>G

1 paper

NM_022916.6

p.M205L

c.613A>T

9 papers

NM_022916.6

p.R200P

c.599G>C