Varaico: Literature-Extracted Genetic Variants

Gene:COG1
Variant:p.R831Q

COG1

110 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. It is thought that this protein is requ...

Pfam Domains

VPS51_Exo84_Naa 12–93UCSCVps51/EXO84/COG1 N-terminal

Gene Aliases

HGNC Name

component of oligomeric golgi complex 1

HGNC Previous Symbol

LDLB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_018714.3
p.R831Q
c.2492G>A
Surrounding Variants
1 paper
NM_018714.3
p.S832fs
c.2494_2495fs
1 paper
NM_018714.3
p.K833_D835del3
c.2497_2504del9
1 paper
NM_018714.3
p.R805Q
c.2414G>A
1 paper
NM_018714.3
p.E839K
c.2515G>A
1 paper
NM_018714.3
p.F852L
c.2554T>C
1 paper
NM_018714.3
p.F852L
c.2556T>A
1 paper
NM_018714.3
p.F852L
c.2556T>G
1 paper
NM_018714.3
p.D853H
c.2557G>C
1 paper
NM_018714.3
p.N864N
c.2592C>T
1 paper
NM_018714.3
p.V869G
c.2606T>G
1 paper
NM_018714.3
p.S873Y
c.2618C>A
11 papers
NM_018714.3
p.A887insFs
c.2660_2661insC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."