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

4 papers

NM_020751.3

p.C32S

c.94T>A

Surrounding Variants

4 papers

NM_020751.3

p.C32S

c.95G>C

1 paper

NM_020751.3

p.S36W

c.107C>G

1 paper

NM_020751.3

p.G26V

c.77G>T

1 paper

NM_020751.3

p.A24delFs

c.72delA

1 paper

NM_020751.3

p.H40Y

c.118C>T

1 paper

NM_020751.3

p.G23G

c.69G>A

1 paper

NM_020751.3

p.G19_L20insFs

c.57_58insAT

1 paper

NM_020751.3

p.S12delFs

c.35delC

3 papers

NM_020751.3

p.A10T

c.28G>A

1 paper

NM_020751.3

p.V8L

c.22G>C

1 paper

NM_020751.3

p.V8L

c.22G>T

2 papers

NM_020751.3

p.A2insFs

c.5dupC