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.S83A

c.247T>G

Surrounding Variants

1 paper

NM_031431.4

p.T84A

c.250A>G

1 paper

NM_031431.4

p.E82K

c.244G>A

1 paper

NM_031431.4

p.E85K

c.253G>A

1 paper

NM_031431.4

p.E85A

c.254A>C

1 paper

NM_031431.4

p.V80M

c.238G>A

1 paper

NM_031431.4

p.L89V

c.265T>G

1 paper

NM_031431.4

p.L89S

c.266T>C

1 paper

NM_031431.4

p.I74N

c.221T>A

1 paper

NM_031431.4

p.L95I

c.283T>A

1 paper

NM_031431.4

p.L67F

c.201A>C

1 paper

NM_031431.4

p.L67F

c.201A>T

1 paper

NM_031431.4

p.R101K

c.302G>A