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

2 papers

NM_003715.4

p.L127Q

c.380T>A

Surrounding Variants

1 paper

NM_003715.4

p.S129A

c.385T>G

1 paper

NM_003715.4

p.T114insFs

c.341_342insCT

1 paper

NM_003715.4

p.Q112Q

c.336A>G

1 paper

NM_003715.4

p.Q105E

c.313C>G

1 paper

NM_003715.4

p.S102_T103insFs

c.306_307insT

1 paper

NM_003715.4

p.S102C

c.305C>G

1 paper

NM_003715.4

p.E100G

c.299A>G

1 paper

NM_003715.4

p.D135N

c.403G>A

1 paper

NM_003715.4

p.D135H

c.403G>C

1 paper

NM_003715.4

p.F136L

c.408C>A

1 paper

NM_003715.4

p.F136F

c.408C>T

1 paper

NM_003715.4

p.H137R

c.410A>G