Varaico: Literature-Extracted Genetic Variants

COG3

125 papers

RefSeq Summary

This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the...

Pfam Domains

COG3_Naa 129–273UCSCConserved oligomeric Golgi complex subunit 3, N-terminal

COG3_Caa 293–642UCSCConserved oligomeric Golgi complex subunit 3, C-terminal

Gene Aliases

HGNC Name

component of oligomeric golgi complex 3

HGNC Alias Symbol

SEC34

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_031431.4

p.T557T

c.1671G>A

Surrounding Variants

1 paper

NM_031431.4

p.L537L

c.1611C>G

1 paper

NM_031431.4

p.R574K

c.1721G>A

2 papers

NM_031431.4

p.G579*

c.1735G>T

1 paper

NM_031431.4

p.Q590*

c.1768C>T

1 paper

NM_031431.4

p.G594G

c.1782A>G

1 paper

NM_031431.4

p.A595V

c.1784C>T

1 paper

NM_031431.4

p.D607N

c.1819G>A

1 paper

NM_031431.4

p.D607A

c.1820A>C

2 papers

NM_031431.4

p.R620C

c.1858C>T

10 papers

NM_031431.4

p.I635V

c.1903A>G

1 paper

NM_031431.4

p.E512K

c.1534G>A

1 paper

NM_031431.4

p.S511*

c.1532C>A