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.L386H

c.1157T>A

Surrounding Variants

1 paper

NM_003715.4

p.Y387F

c.1160A>T

1 paper

NM_003715.4

p.L381del1

c.1141_1142delTTG

1 paper

NM_003715.4

p.V380I

c.1138G>A

2 papers

NM_003715.4

p.R376W

c.1126A>T

1 paper

NM_003715.4

p.G401E

c.1202G>A

1 paper

NM_003715.4

p.T411I

c.1232C>T

1 paper

NM_003715.4

p.D413insFs

c.1238_1239insA

1 paper

NM_003715.4

p.P361T

c.1081C>A

1 paper

NM_003715.4

p.A356A

c.1068A>G

1 paper

NM_003715.4

p.S353A

c.1057T>G

1 paper

NM_003715.4

p.N335D

c.1003A>G

1 paper

NM_003715.4

p.N335insFs

c.1004_1005insA