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.L408insFs

c.1223_1224ins28

Surrounding Variants

9 papers

NM_020751.3

p.I413insFs

c.1238_1239insA

8 papers

NM_020751.3

p.F414fs

c.1240_1241fs

1 paper

NM_020751.3

p.A396E

c.1187C>A

5 papers

NM_020751.3

p.G390fs

c.1168_1169fs

22 papers

NM_020751.3

p.S389Splc

c.1167-24A>G

1 paper

NM_020751.3

p.F383L

c.1149T>A

1 paper

NM_020751.3

p.F383L

c.1149T>G

1 paper

NM_020751.3

p.F383L

c.1147T>C

1 paper

NM_020751.3

p.K382R

c.1145A>G

3 papers

NM_020751.3

p.L381del1

c.1141_1142delCTC

2 papers

NM_020751.3

p.K358_V359Splc

c.1075-1G>T

4 papers

NM_020751.3

p.K358_V359Splc

c.1075-9T>G