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.L433I

c.1297C>A

Surrounding Variants

1 paper

NM_022916.6

p.V376L

c.1126G>T

2 papers

NM_022916.6

p.Y438D

c.1312T>G

1 paper

NM_022916.6

p.H440Y

c.1318C>T

1 paper

NM_022916.6

p.H440_K449del10

c.1318_1346del30

1 paper

NM_022916.6

p.L453P

c.1358T>C

1 paper

NM_022916.6

p.P455Q

c.1364C>A

1 paper

NM_022916.6

p.G459fs

c.1375_1376fs

1 paper

NM_022916.6

p.G459delFs

c.1376delC

1 paper

NM_022916.6

p.M474V

c.1420A>G

1 paper

NM_022916.6

p.T365insFs

c.1094_1095dupCT

1 paper

NM_022916.6

p.E359G

c.1076A>G

1 paper

NM_022916.6

p.S350L

c.1049C>T