Varaico: Literature-Extracted Genetic Variants

USO1

476 papers

RefSeq Summary

The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated pro...

Pfam Domains

Arm_vescicularaa 269–329UCSCArmadillo tether-repeat of vescicular transport factor

Uso1_p115_headaa 345–628UCSCUso1 / p115 like vesicle tethering protein, head region

Uso1_p115_Caa 779–953UCSCUso1 / p115 like vesicle tethering protein, C terminal region

Gene Aliases

HGNC Name

USO1 vesicle transport factor

HGNC Alias Symbols

VDP; p115

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003715.4

p.G80S

c.238G>A

Surrounding Variants

1 paper

NM_003715.4

p.Y81N

c.241T>A

1 paper

NM_003715.4

p.E77Q

c.229G>C

1 paper

NM_003715.4

p.E77*

c.229G>T

1 paper

NM_003715.4

p.L83*

c.248T>A

1 paper

NM_003715.4

p.D84H

c.250G>C

1 paper

NM_003715.4

p.N88D

c.262A>G

1 paper

NM_003715.4

p.N88S

c.263A>G

1 paper

NM_003715.4

p.S91T

c.271T>A

1 paper

NM_003715.4

p.S91Y

c.272C>A

2 papers

NM_003715.4

p.E97A

c.290A>C

1 paper

NM_003715.4

p.E97V

c.290A>T

1 paper

NM_003715.4

p.R73Splc

c.218+1G>A