Varaico: Literature-Extracted Genetic Variants

COG6

129 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 apparatus. The encoded protein is organized with conse...

Pfam Domains

COG6_Naa 60–173UCSCConserved oligomeric complex COG6, N-terminal

COG6_Caa 205–656UCSCConserved Oligomeric Golgi complex subunit 6, C-terminal

Gene Aliases

HGNC Name

component of oligomeric golgi complex 6

HGNC Alias Symbols

COD2; KIAA1134

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020751.3

p.L218H

c.653T>A

Surrounding Variants

1 paper

NM_020751.3

p.G208Splc

c.624-2A>T

1 paper

NM_020751.3

p.S232insFs

c.694_695ins7

1 paper

NM_020751.3

p.N203H

c.607A>C

1 paper

NM_020751.3

p.R201L

c.602G>T

3 papers

NM_020751.3

p.S232Splc

c.695-8T>G

1 paper

NM_020751.3

p.S232fs

c.694_695fs

1 paper

NM_020751.3

p.E233K

c.697G>A

1 paper

NM_020751.3

p.E233*

c.697G>T

1 paper

NM_020751.3

p.C234insFs

c.701dupG

1 paper

NM_020751.3

p.C242fs

c.724_725fs

1 paper

NM_020751.3

p.C242delFs

c.726delT

1 paper

NM_020751.3

p.V244I

c.730G>A