Varaico: Literature-Extracted Genetic Variants

Gene:COG8
Variant:p.C499R

COG8

64 papers

RefSeq Summary

This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracel...

Pfam Domains

Dor1aa 50–388UCSCDor1-like family

Gene Aliases

HGNC Name

component of oligomeric golgi complex 8

HGNC Alias Symbols

FLJ22315; DOR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032382.5
p.C499R
c.1495T>C
Surrounding Variants
1 paper
NM_032382.5
p.L503insFs
c.1508dupT
2 papers
NM_032382.5
p.G528Splc
c.1583-1G>A
6 papers
NM_032382.5
p.K471_V472Splc
c.1413+1G>A
9 papers
NM_032382.5
p.Y537*
c.1611C>G
7 papers
NM_032382.5
p.Y537*
c.1611C>A
1 paper
NM_032382.5
p.L540L
c.1620A>C
5 papers
NM_032382.5
p.L552insFs
c.1656dupC
1 paper
NM_032382.5
p.L451L
c.1353C>G
3 papers
NM_032382.5
p.A553fs
c.1657_1658fs
1 paper
NM_032382.5
p.R450H
c.1349G>A
1 paper
NM_032382.5
p.N447S
c.1340A>G
1 paper
NM_032382.5
p.E560_T561delFs
c.1680_1681delTC
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."