Varaico: Literature-Extracted Genetic Variants

VPS39

52 papers

RefSeq Summary

This gene encodes a protein that may promote clustering and fusion of late endosomes and lysosomes. The protein may also act as an adaptor protein that modulates the transforming growth factor-beta re...

Pfam Domains

CNHaa 24–290UCSCCNH domain

Vps39_1aa 460–562UCSCVacuolar sorting protein 39 domain 1

zf-Vps39_Caa 841–881UCSCVacuolar sorting protein 39 C-terminal zinc finger domain

Gene Aliases

HGNC Name

VPS39 subunit of HOPS complex

HGNC Alias Symbols

KIAA0770; VAM6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015289.5

p.M623L

c.1867A>C

Surrounding Variants

1 paper

NM_015289.5

p.M623L

c.1867A>T

1 paper

NM_015289.5

p.R606W

c.1816C>T

1 paper

NM_015289.5

p.R650L

c.1949G>T

1 paper

NM_015289.5

p.F580L

c.1740C>G

1 paper

NM_015289.5

p.F580L

c.1740C>A

1 paper

NM_015289.5

p.F580L

c.1738T>C

1 paper

NM_015289.5

p.D575Y

c.1723G>T

1 paper

NM_015289.5

p.E556D

c.1668A>T

1 paper

NM_015289.5

p.E556D

c.1668A>C

1 paper

NM_015289.5

p.Q693*

c.2077C>T

1 paper

NM_015289.5

p.A708T

c.2122G>A

1 paper

NM_015289.5

p.A507Splc

c.1520-4C>G