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

2 papers

NM_031431.4

p.R620C

c.1858C>T

Surrounding Variants

1 paper

NM_031431.4

p.D607A

c.1820A>C

1 paper

NM_031431.4

p.D607N

c.1819G>A

10 papers

NM_031431.4

p.I635V

c.1903A>G

1 paper

NM_031431.4

p.D644Splc

c.1930+1G>T

1 paper

NM_031431.4

p.D644Splc

c.1931-1G>T

1 paper

NM_031431.4

p.M653T

c.1958T>C

1 paper

NM_031431.4

p.E677D

c.2031G>C

1 paper

NM_031431.4

p.E677D

c.2031G>T

1 paper

NM_031431.4

p.K687insFs

c.2061dupA

1 paper

NM_031431.4

p.K687delFs

c.2061delA

1 paper

NM_031431.4

p.D688N

c.2062G>A

1 paper

NM_031431.4

p.V689I

c.2065G>A