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.L525_L526Splc

c.1576-15A>G

Surrounding Variants

1 paper

NM_006348.5

p.S527fs

c.1579_1580fs

1 paper

NM_006348.5

p.H557Q

c.1671C>G

1 paper

NM_006348.5

p.L556_V560del5

c.1666_1679del15

1 paper

NM_006348.5

p.K562R

c.1685A>G

1 paper

NM_006348.5

p.V563F

c.1687G>T

1 paper

NM_006348.5

p.P571L

c.1712C>T

1 paper

NM_006348.5

p.K583insFs

c.1749dupG

1 paper

NM_006348.5

p.D602D

c.1806T>C

1 paper

NM_006348.5

p.I608F

c.1822A>T

1 paper

NM_006348.5

p.I609T

c.1826T>C

1 paper

NM_006348.5

p.T610delFs

c.1828delT