Varaico: Literature-Extracted Genetic Variants

Gene:COG2

COG2

114 papers

RefSeq Summary

This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts wi...

Pfam Domains

COG2_Naa 15–89UCSCCOG2 N-terminal
COG2_Caa 378–699UCSCCOG complex component, COG2, C-terminal

Gene Aliases

HGNC Name

component of oligomeric golgi complex 2

HGNC Previous Symbol

LDLC

Papers
RefSeq ID
Protein change
DNA change
1–12 of 95 variants
8 papers
NM_007357.3
p.W634G
c.1900T>G
6 papers
NM_007357.3
p.Y234insFs
c.701dupA
6 papers
NM_007357.3
p.Y234*
c.702C>A
6 papers
NM_007357.3
p.Y234*
c.702C>G
3 papers
NM_007357.3
p.I346V
c.1036A>G
2 papers
NM_007357.3
p.N148I
c.443A>T
2 papers
NM_007357.3
p.C287R
c.859T>C
2 papers
NM_007357.3
p.A400E
c.1199C>A
2 papers
NM_007357.3
p.Q619P
c.1856A>C
1 paper
NM_007357.3
p.M1T
c.2T>C
1 paper
NM_007357.3
p.D26G
c.77A>G
1 paper
NM_007357.3
p.D30Y
c.88G>T
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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."