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.M62R

c.185T>G

Surrounding Variants

1 paper

NM_003715.4

p.M62I

c.186G>A

1 paper

NM_003715.4

p.A61A

c.183T>A

1 paper

NM_003715.4

p.I59T

c.176T>C

1 paper

NM_003715.4

p.L65L

c.195T>A

1 paper

NM_003715.4

p.G58G

c.174T>A

1 paper

NM_003715.4

p.G58A

c.173G>C

1 paper

NM_003715.4

p.G58V

c.173G>T

1 paper

NM_003715.4

p.G58C

c.172G>T

1 paper

NM_003715.4

p.V57insFs

c.171dupG

1 paper

NM_003715.4

p.H67H

c.201T>C

1 paper

NM_003715.4

p.Q70delFs

c.208delC

1 paper

NM_003715.4

p.Q70fs

c.208_209fs