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.K791R

c.2372A>G

Surrounding Variants

1 paper

NM_003715.4

p.S775F

c.2324C>T

1 paper

NM_003715.4

p.S751R

c.2251A>C

1 paper

NM_003715.4

p.E741D

c.2223A>C

1 paper

NM_003715.4

p.E741D

c.2223A>T

1 paper

NM_003715.4

p.E741A

c.2222A>C

1 paper

NM_003715.4

p.P729S

c.2185C>T

1 paper

NM_003715.4

p.L704del1

c.2110_2112delCTT

2 papers

NM_003715.4

p.H697R

c.2090A>G

1 paper

NM_003715.4

p.Q695*

c.2083C>T

1 paper

NM_003715.4

p.N680S

c.2039A>G

1 paper

NM_003715.4

p.K677E

c.2029A>G

1 paper

NM_003715.4

p.K815R

c.2444A>G