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.I414F

c.1240A>T

Surrounding Variants

1 paper

NM_031431.4

p.I414I

c.1242C>T

1 paper

NM_031431.4

p.L413insFs

c.1238_1239insA

1 paper

NM_031431.4

p.D408A

c.1223A>C

1 paper

NM_031431.4

p.Y384C

c.1151A>G

1 paper

NM_031431.4

p.R360K

c.1079G>A

1 paper

NM_031431.4

p.N358D

c.1072A>G

1 paper

NM_031431.4

p.R339G

c.1015C>G

1 paper

NM_031431.4

p.Q325*

c.973C>T

1 paper

NM_031431.4

p.R317Q

c.950G>A

1 paper

NM_031431.4

p.E315Q

c.943G>C

1 paper

NM_031431.4

p.L446R

c.1337T>G

1 paper

NM_031431.4

p.Y471N

c.1411T>A