Varaico: Literature-Extracted Genetic Variants

Gene:COG8
Variant:p.R290C

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.R290C
c.868C>T
Surrounding Variants
1 paper
NM_032382.5
p.E296K
c.886G>A
1 paper
NM_032382.5
p.D266G
c.797A>G
1 paper
NM_032382.5
p.D265H
c.793G>C
1 paper
NM_032382.5
p.W254R
c.760T>C
1 paper
NM_032382.5
p.R251*
c.751C>T
1 paper
NM_032382.5
p.H341N
c.1021C>A
1 paper
NM_032382.5
p.S344F
c.1031C>T
1 paper
NM_032382.5
p.S344C
c.1031C>G
1 paper
NM_032382.5
p.S344delFs
c.1030delA
1 paper
NM_032382.5
p.S344fs
c.1030_1031fs
1 paper
NM_032382.5
p.L345delFs
c.1033_1034delAG
1 paper
NM_032382.5
p.L222F
c.664C>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."