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.A2G

c.5C>G

Surrounding Variants

1 paper

NM_031431.4

p.L6insFs

c.17_18insT

2 papers

NM_031431.4

p.L7_L8delFs

c.19_23del5

1 paper

NM_031431.4

p.P10L

c.29C>T

2 papers

NM_031431.4

p.R19_A23del5

c.55_68del15

1 paper

NM_031431.4

p.R19W

c.55A>T

1 paper

NM_031431.4

p.D37H

c.109G>C

1 paper

NM_031431.4

p.Q39K

c.115C>A

1 paper

NM_031431.4

p.T40R

c.119C>G

2 papers

NM_031431.4

p.S42P

c.124T>C

1 paper

NM_031431.4

p.N52I

c.155A>T

1 paper

NM_031431.4

p.V55E

c.164T>A