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

1–12 of 104 variants

10 papers

NM_031431.4

p.I635V

c.1903A>G

4 papers

NM_031431.4

p.L825S

c.2474T>C

3 papers

NM_031431.4

p.N747S

c.2240A>G

2 papers

NM_031431.4

p.L7_L8delFs

c.19_23del5

2 papers

NM_031431.4

p.R19_A23del5

c.55_68del15

2 papers

NM_031431.4

p.S42P

c.124T>C

2 papers

NM_031431.4

p.D230G

c.689A>G

2 papers

NM_031431.4

p.H239_P240Splc

c.718-1G>A

2 papers

NM_031431.4

p.G579*

c.1735G>T

2 papers

NM_031431.4

p.R620C

c.1858C>T

2 papers

NM_031431.4

p.Q738*

c.2212C>T

2 papers

NM_031431.4

p.A753Fs

c.2257delinsAAFs