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.M634R

c.1901T>G

Surrounding Variants

3 papers

NM_006348.5

p.F640S

c.1919T>C

1 paper

NM_006348.5

p.M645L

c.1933A>C

1 paper

NM_006348.5

p.T662P

c.1984A>C

1 paper

NM_006348.5

p.I680T

c.2039T>C

1 paper

NM_006348.5

p.V702fs

c.2104_2105fs

1 paper

NM_006348.5

p.S715_Y716del2

c.2143_2147del6

1 paper

NM_006348.5

p.R717L

c.2150G>T