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

2 papers

NM_006348.5

p.L100F

c.298C>T

Surrounding Variants

1 paper

NM_006348.5

p.R116Splc

c.347+1G>A

1 paper

NM_006348.5

p.R116Splc

c.348-2A>G

1 paper

NM_006348.5

p.G98Splc

c.292+1G>A

1 paper

NM_006348.5

p.H83_A88del6

c.247_263del18

1 paper

NM_006348.5

p.V80fs

c.238_239fs

1 paper

NM_006348.5

p.L75_H76delFs

c.224_227del4

1 paper

NM_006348.5

p.L75fs

c.223_224fs

1 paper

NM_006348.5

p.I68N

c.203T>A

1 paper

NM_006348.5

p.K63delFs

c.189delT

1 paper

NM_006348.5

p.C33fs

c.97_98fs