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.A15A

c.45T>C

Surrounding Variants

1 paper

NM_006348.5

p.A15V

c.44C>T

1 paper

NM_006348.5

p.S18_G19insGC

c.52_56ins6

1 paper

NM_006348.5

p.G19_A20insFs

c.57_58insAT

1 paper

NM_006348.5

p.A20V

c.59C>T

1 paper

NM_006348.5

p.A22T

c.64G>A

1 paper

NM_006348.5

p.G6_S7insFs

c.18_19insGC

1 paper

NM_006348.5

p.G5G

c.15C>G

2 papers

NM_006348.5

p.M1R

c.2T>G

1 paper

NM_006348.5

p.M1T

c.2T>C

1 paper

NM_006348.5

p.L28_Q30del0

c.83_88del6

1 paper

NM_006348.5

p.C33fs

c.97_98fs

1 paper

NM_006348.5

p.K63delFs

c.189delT