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.E96*

c.286G>T

Surrounding Variants

1 paper

NM_020751.3

p.E96E

c.288A>G

1 paper

NM_020751.3

p.S83insFs

c.247dupA

3 papers

NM_020751.3

p.E80K

c.238G>A

1 paper

NM_020751.3

p.R76C

c.226C>T

1 paper

NM_020751.3

p.L69Q

c.206T>A

1 paper

NM_020751.3

p.K58E

c.172A>G

1 paper

NM_020751.3

p.L57F

c.169C>T

2 papers

NM_020751.3

p.E52G

c.155A>G

1 paper

NM_020751.3

p.E52fs

c.154_155fs

1 paper

NM_020751.3

p.E100V

c.299A>T

1 paper

NM_020751.3

p.D107V

c.320A>T

1 paper

NM_020751.3

p.S120G

c.358A>G