Varaico: Literature-Extracted Genetic Variants

COG5

71 papers

RefSeq Summary

The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with c...

Pfam Domains

COG5_Naa 35–158UCSCConserved oligomeric Golgi complex subunit 5, N-terminal

COG5_Naa 66–189UCSCConserved oligomeric Golgi complex subunit 5, N-terminal

COG5_Caa 219–424UCSCConserved oligomeric Golgi complex subunit 5, C-terminal

Gene Aliases

HGNC Name

component of oligomeric golgi complex 5

HGNC Previous Symbol

GOLTC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006348.5

p.Y416C

c.1247A>G

Surrounding Variants

1 paper

NM_006348.5

p.T413insFs

c.1238_1239insA

1 paper

NM_006348.5

p.A426T

c.1276G>A

1 paper

NM_006348.5

p.M422_I429delFs

c.1265_1286del22

3 papers

NM_006348.5

p.F430L

c.1290C>A

1 paper

NM_006348.5

p.Y399*

c.1197C>G

1 paper

NM_006348.5

p.Y399*

c.1197C>A

1 paper

NM_006348.5

p.S371L

c.1112C>T