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.K51_K52Splc

c.153+1G>A

Surrounding Variants

1 paper

NM_003715.4

p.L49I

c.145T>A

1 paper

NM_003715.4

p.S48A

c.142T>G

1 paper

NM_003715.4

p.K47N

c.141A>C

1 paper

NM_003715.4

p.K47N

c.141A>T

1 paper

NM_003715.4

p.L46P

c.137T>C

1 paper

NM_003715.4

p.A45V

c.134C>T

1 paper

NM_003715.4

p.V43V

c.129T>C

1 paper

NM_003715.4

p.N41D

c.121A>G

2 papers

NM_003715.4

p.N41Y

c.121A>T

1 paper

NM_003715.4

p.D38A

c.113A>C

1 paper

NM_003715.4

p.D38V

c.113A>T

1 paper

NM_003715.4

p.D37A

c.110A>C