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

1–12 of 97 variants

26 papers

NM_022916.6

p.R498W

c.1492C>T

13 papers

NM_022916.6

p.D251E

c.753T>G

13 papers

NM_022916.6

p.D251E

c.753T>A

9 papers

NM_022916.6

p.R200P

c.599G>C

3 papers

NM_022916.6

p.I256L

c.766A>C

2 papers

NM_022916.6

p.R116C

c.346C>T

2 papers

NM_022916.6

p.F147_D150delFs

c.440_449del10

2 papers

NM_022916.6

p.E323A

c.968A>C

2 papers

NM_022916.6

p.Y438D

c.1312T>G

1 paper

NM_022916.6

p.M1insFs

c.1_2ins8

1 paper

NM_022916.6

p.M1insFs

c.1_2ins5

1 paper

NM_022916.6

p.A3S

c.7G>T