Varaico: Literature-Extracted Genetic Variants

Gene:COG8
Variant:p.T575I

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
2 papers
NM_032382.5
p.T575I
c.1724C>T
Surrounding Variants
1 paper
NM_032382.5
p.P581T
c.1741C>A
1 paper
NM_032382.5
p.F563delFs
c.1687_1688delAA
1 paper
NM_032382.5
p.E560_T561delFs
c.1680_1681delTC
1 paper
NM_032382.5
p.A591V
c.1772C>T
5 papers
NM_032382.5
p.L552insFs
c.1656dupC
3 papers
NM_032382.5
p.A553fs
c.1657_1658fs
1 paper
NM_032382.5
p.A601V
c.1802C>T
1 paper
NM_032382.5
p.L540L
c.1620A>C
9 papers
NM_032382.5
p.Y537*
c.1611C>G
7 papers
NM_032382.5
p.Y537*
c.1611C>A
2 papers
NM_032382.5
p.G528Splc
c.1583-1G>A
1 paper
NM_032382.5
p.L503insFs
c.1508dupT
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