Varaico: Literature-Extracted Genetic Variants

Gene:COG2
Variant:p.R172K

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
Selected Variant
1 paper
NM_007357.3
p.R172K
c.515G>A
Surrounding Variants
1 paper
NM_007357.3
p.R172*
c.514A>T
1 paper
NM_007357.3
p.R199H
c.596G>A
1 paper
NM_007357.3
p.T221K
c.662C>A
1 paper
NM_007357.3
p.R232Q
c.695G>A
6 papers
NM_007357.3
p.Y234insFs
c.701dupA
1 paper
NM_007357.3
p.Y234fs
c.700_701fs
6 papers
NM_007357.3
p.Y234*
c.702C>A
6 papers
NM_007357.3
p.Y234*
c.702C>G
1 paper
NM_007357.3
p.A245T
c.733G>A
1 paper
NM_007357.3
p.E262G
c.785A>G
1 paper
NM_007357.3
p.M275V
c.823A>G
2 papers
NM_007357.3
p.C287R
c.859T>C
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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."