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.S326C

c.977C>G

Surrounding Variants

1 paper

NM_015289.5

p.L319L

c.957C>T

1 paper

NM_015289.5

p.L308L

c.924C>T

1 paper

NM_015289.5

p.P299S

c.895C>T

2 papers

NM_015289.5

p.G279R

c.835G>C

2 papers

NM_015289.5

p.G279R

c.835G>A

1 paper

NM_015289.5

p.R252G

c.754C>G

1 paper

NM_015289.5

p.Q411_K412Splc

c.1234-1G>C

1 paper

NM_015289.5

p.K443N

c.1329G>T

1 paper

NM_015289.5

p.K443N

c.1329G>C

1 paper

NM_015289.5

p.I449I

c.1347C>T

1 paper

NM_015289.5

p.E493K

c.1477G>A

1 paper

NM_015289.5

p.A507Splc

c.1520-4C>G