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

1–12 of 49 variants

2 papers

NM_015289.5

p.G279R

c.835G>C

2 papers

NM_015289.5

p.G279R

c.835G>A

2 papers

NM_015289.5

p.R790C

c.2368C>T

1 paper

NM_015289.5

p.P7S

c.19C>T

1 paper

NM_015289.5

p.C20W

c.60T>G

1 paper

NM_015289.5

p.L29P

c.86T>C

1 paper

NM_015289.5

p.H36del1

c.106_108delATG

1 paper

NM_015289.5

p.G35_Y40del0

c.105_119del15

1 paper

NM_015289.5

p.L39_R41delins

c.116_122delinsC

1 paper

NM_015289.5

p.R43_K44del1

c.129_131delTTC

1 paper

NM_015289.5

p.R41_D45del0

c.123_134del12

1 paper

NM_015289.5

p.R41_V46del0

c.121_138del18