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.R450H

c.1349G>A

Surrounding Variants

1 paper

NM_020751.3

p.R450C

c.1348C>T

1 paper

NM_020751.3

p.M447T

c.1340T>C

5 papers

NM_020751.3

p.V460F

c.1378G>T

1 paper

NM_020751.3

p.V461V

c.1383A>C

1 paper

NM_020751.3

p.P438L

c.1313C>T

1 paper

NM_020751.3

p.D469delFs

c.1407delT

1 paper

NM_020751.3

p.V487I

c.1459G>A

1 paper

NM_020751.3

p.L512*

c.1535T>A

1 paper

NM_020751.3

p.L512*

c.1535T>G

1 paper

NM_020751.3

p.R521H

c.1562G>A

1 paper

NM_020751.3

p.E539K

c.1615G>A

1 paper

NM_020751.3

p.A541G

c.1622C>G