Varaico: Literature-Extracted Genetic Variants

Gene:COG5
Variant:p.R205*

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
4 papers
NM_006348.5
p.R205*
c.613C>T
Surrounding Variants
1 paper
NM_006348.5
p.I201_A202del2
c.601_605del6
1 paper
NM_006348.5
p.I186_D187delFs
c.556_560del5
1 paper
NM_006348.5
p.Q223Q
c.669G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."