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.V37insFs

c.110_111insA

Surrounding Variants

1 paper

NM_022916.6

p.E40D

c.120A>T

1 paper

NM_022916.6

p.P45insFs

c.133_134dupCC

1 paper

NM_022916.6

p.V60M

c.178G>A

1 paper

NM_022916.6

p.G68E

c.203G>A

1 paper

NM_022916.6

p.R70C

c.208C>T

1 paper

NM_022916.6

p.F82delFs

c.246delA

1 paper

NM_022916.6

p.F82_L87Fs

c.244_259delinsGAGAGCFs

1 paper

NM_022916.6

p.D91N

c.271G>A

1 paper

NM_022916.6

p.L23P

c.68T>C

1 paper

NM_022916.6

p.L15S

c.44T>C

1 paper

NM_022916.6

p.N13S

c.38A>G

1 paper

NM_022916.6

p.S6S

c.18C>A