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

2 papers

NM_022916.6

p.R116C

c.346C>T

Surrounding Variants

1 paper

NM_022916.6

p.R117C

c.349C>T

1 paper

NM_022916.6

p.R117L

c.350G>T

1 paper

NM_022916.6

p.R117P

c.350G>C

1 paper

NM_022916.6

p.R117H

c.350G>A

1 paper

NM_022916.6

p.V114L

c.340G>T

1 paper

NM_022916.6

p.V114L

c.340G>C

1 paper

NM_022916.6

p.E122K

c.364G>A

1 paper

NM_022916.6

p.H110_I111insA

c.328_332ins3

1 paper

NM_022916.6

p.F109I

c.325T>A

1 paper

NM_022916.6

p.R137G

c.409A>G

1 paper

NM_022916.6

p.E138*

c.412G>T

1 paper

NM_022916.6

p.P146delFs

c.436delG