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.N49T

c.146A>C

Surrounding Variants

1 paper

NM_015289.5

p.L55insFs

c.164_165ins4

1 paper

NM_015289.5

p.K60T

c.179A>C

1 paper

NM_015289.5

p.Q67L

c.200A>T

1 paper

NM_015289.5

p.M125V

c.373A>G

1 paper

NM_015289.5

p.Q147P

c.440A>C

1 paper

NM_015289.5

p.E196E

c.588G>A

1 paper

NM_015289.5

p.D204V

c.611A>T

1 paper

NM_015289.5

p.V207V

c.621G>A

1 paper

NM_015289.5

p.V216M

c.646G>A

1 paper

NM_015289.5

p.G35_V46del0

c.103_138del36

1 paper

NM_015289.5

p.R41_V46del0

c.121_138del18

1 paper

NM_015289.5

p.L38_V46del0

c.112_138del27