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

1–12 of 87 variants

5 papers

NM_006348.5

p.S775F

c.2324C>T

4 papers

NM_006348.5

p.R205*

c.613C>T

3 papers

NM_006348.5

p.F430L

c.1290C>A

3 papers

NM_006348.5

p.F640S

c.1919T>C

2 papers

NM_006348.5

p.M1R

c.2T>G

2 papers

NM_006348.5

p.L100F

c.298C>T

2 papers

NM_006348.5

p.S155_K156delins

c.463_467delinsCT

2 papers

NM_006348.5

p.D343E

c.1029T>A

2 papers

NM_006348.5

p.L503insFs

c.1508dupT

2 papers

NM_006348.5

p.L525_L526Splc

c.1576-15A>G

1 paper

NM_006348.5

p.M1T

c.2T>C

1 paper

NM_006348.5

p.G5G

c.15C>G