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.G833E

c.2498G>A

Surrounding Variants

1 paper

NM_003715.4

p.K827K

c.2481A>G

1 paper

NM_003715.4

p.A840S

c.2518G>T

1 paper

NM_003715.4

p.K861R

c.2582A>G

1 paper

NM_003715.4

p.K815R

c.2444A>G

1 paper

NM_003715.4

p.E869D

c.2607G>C

1 paper

NM_003715.4

p.R871K

c.2612G>A

1 paper

NM_003715.4

p.I887insFs

c.2660_2661insC

1 paper

NM_003715.4

p.D893N

c.2677G>A

13 papers

NM_003715.4

p.D893Y

c.2677G>T

1 paper

NM_003715.4

p.S902A

c.2704T>G

1 paper

NM_003715.4

p.K919R

c.2756A>G

1 paper

NM_003715.4

p.K791R

c.2372A>G