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.R281M

c.842G>T

Surrounding Variants

1 paper

NM_031431.4

p.D244E

c.732T>A

1 paper

NM_031431.4

p.D244E

c.732T>G

1 paper

NM_031431.4

p.N241S

c.722A>G

1 paper

NM_031431.4

p.N241D

c.721A>G

2 papers

NM_031431.4

p.H239_P240Splc

c.718-1G>A

2 papers

NM_031431.4

p.D230G

c.689A>G

1 paper

NM_031431.4

p.N211S

c.632A>G

1 paper

NM_031431.4

p.T208_K209Splc

c.624+1G>A

1 paper

NM_031431.4

p.K196T

c.587A>C

1 paper

NM_031431.4

p.L189P

c.566T>C

1 paper

NM_031431.4

p.L189V

c.565C>G

1 paper

NM_031431.4

p.G170*

c.508G>T