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

5 papers

NM_006348.5

p.S775F

c.2324C>T

Surrounding Variants

1 paper

NM_006348.5

p.H781R

c.2342A>G

1 paper

NM_006348.5

p.P744L

c.2231C>T

1 paper

NM_006348.5

p.V733delFs

c.2197delC

1 paper

NM_006348.5

p.V733fs

c.2197_2198fs

1 paper

NM_006348.5

p.P724_L725del1

c.2171_2173delGAG

1 paper

NM_006348.5

p.R723R

c.2169A>G

1 paper

NM_006348.5

p.Q800R

c.2399A>G

1 paper

NM_006348.5

p.E809*

c.2425G>T

1 paper

NM_006348.5

p.M825fs

c.2473_2474fs

1 paper

NM_006348.5

p.M825delFs

c.2473_2474delAT