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.E21A

c.62A>C

Surrounding Variants

1 paper

NM_003715.4

p.A20T

c.58G>A

1 paper

NM_003715.4

p.A20P

c.58G>C

1 paper

NM_003715.4

p.T22_I23Splc

c.66+4A>C

1 paper

NM_003715.4

p.H17Q

c.51C>A

1 paper

NM_003715.4

p.G14E

c.41G>A

1 paper

NM_003715.4

p.Q11Q

c.33G>A

1 paper

NM_003715.4

p.G9E

c.26G>A

1 paper

NM_003715.4

p.G9V

c.26G>T

1 paper

NM_003715.4

p.G6E

c.17G>A

1 paper

NM_003715.4

p.G6R

c.16G>A

1 paper

NM_003715.4

p.R5R

c.15C>G

1 paper

NM_003715.4

p.L4L

c.12C>G