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.M299I

c.897G>C

Surrounding Variants

1 paper

NM_020751.3

p.M299I

c.897G>A

1 paper

NM_020751.3

p.M299I

c.897G>T

1 paper

NM_020751.3

p.H300Y

c.898C>T

1 paper

NM_020751.3

p.H302_D303Fs

c.906_907delinsAFs

1 paper

NM_020751.3

p.G291R

c.871G>A

1 paper

NM_020751.3

p.G291R

c.871G>C

1 paper

NM_020751.3

p.R279C

c.835C>T

4 papers

NM_020751.3

p.S275fs

c.823_824fs

4 papers

NM_020751.3

p.S275delFs

c.823delA

1 paper

NM_020751.3

p.R274delFs

c.821delG

1 paper

NM_020751.3

p.R274fs

c.820_821fs

1 paper

NM_020751.3

p.F269fs

c.805_806fs