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.F613V

c.1837T>G

Surrounding Variants

1 paper

NM_003715.4

p.G622V

c.1865G>T

1 paper

NM_003715.4

p.S591A

c.1771T>G

1 paper

NM_003715.4

p.E588Q

c.1762G>C

1 paper

NM_003715.4

p.K565E

c.1693A>G

1 paper

NM_003715.4

p.S555A

c.1663T>G

1 paper

NM_003715.4

p.V537V

c.1611C>G

1 paper

NM_003715.4

p.I651delFs

c.1951delA

1 paper

NM_003715.4

p.E528D

c.1584A>C

1 paper

NM_003715.4

p.E528D

c.1584A>T

1 paper

NM_003715.4

p.F521_L522Splc

c.1564-2A>C

1 paper

NM_003715.4

p.A517T

c.1549G>A

1 paper

NM_003715.4

p.K677E

c.2029A>G