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

1–12 of 129 variants

22 papers

NM_020751.3

p.S389Splc

c.1167-24A>G

19 papers

NM_020751.3

p.G549V

c.1646G>T

16 papers

NM_020751.3

p.R171*

c.511C>T

12 papers

NM_020751.3

p.Y262C

c.785A>G

9 papers

NM_020751.3

p.I413insFs

c.1238_1239insA

8 papers

NM_020751.3

p.F414fs

c.1240_1241fs

8 papers

NM_020751.3

p.M582_V583Splc

c.1746+2T>G

6 papers

NM_020751.3

p.Q130*

c.388C>T

5 papers

NM_020751.3

p.E180E

c.540G>A

5 papers

NM_020751.3

p.G390fs

c.1168_1169fs

5 papers

NM_020751.3

p.V460F

c.1378G>T

4 papers

NM_020751.3

p.M1V

c.1A>G