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.P571S

c.1711C>T

Surrounding Variants

1 paper

NM_020751.3

p.V576L

c.1726G>C

1 paper

NM_020751.3

p.V576L

c.1726G>T

1 paper

NM_020751.3

p.M582_V583Splc

c.1746+1G>C

8 papers

NM_020751.3

p.M582_V583Splc

c.1746+2T>G

1 paper

NM_020751.3

p.Q564_G565Splc

c.1692+9A>G

1 paper

NM_020751.3

p.K561E

c.1681A>G

1 paper

NM_020751.3

p.Q558*

c.1672C>T

1 paper

NM_020751.3

p.Y552insFs

c.1656dupC

19 papers

NM_020751.3

p.G549V

c.1646G>T

1 paper

NM_020751.3

p.G549C

c.1645G>T

1 paper

NM_020751.3

p.T546I

c.1637C>T

1 paper

NM_020751.3

p.A541G

c.1622C>G