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

1–12 of 166 variants

13 papers

NM_003715.4

p.D893Y

c.2677G>T

3 papers

NM_003715.4

p.S32*

c.95C>A

3 papers

NM_003715.4

p.T71K

c.212C>A

3 papers

NM_003715.4

p.T71R

c.212C>G

2 papers

NM_003715.4

p.E21A

c.62A>C

2 papers

NM_003715.4

p.C27Y

c.80G>A

2 papers

NM_003715.4

p.N41Y

c.121A>T

2 papers

NM_003715.4

p.E97A

c.290A>C

2 papers

NM_003715.4

p.L127Q

c.380T>A

2 papers

NM_003715.4

p.G142D

c.425G>A

2 papers

NM_003715.4

p.S292T

c.874T>A

2 papers

NM_003715.4

p.R376W

c.1126A>T