Varaico: Literature-Extracted Genetic Variants

COG3

125 papers

RefSeq Summary

This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the...

Pfam Domains

COG3_Naa 129–273UCSCConserved oligomeric Golgi complex subunit 3, N-terminal

COG3_Caa 293–642UCSCConserved oligomeric Golgi complex subunit 3, C-terminal

Gene Aliases

HGNC Name

component of oligomeric golgi complex 3

HGNC Alias Symbol

SEC34

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_031431.4

p.K503insFs

c.1508dupA

Surrounding Variants

1 paper

NM_031431.4

p.Q497Q

c.1491G>A

1 paper

NM_031431.4

p.Q497E

c.1489C>G

1 paper

NM_031431.4

p.S511*

c.1532C>A

1 paper

NM_031431.4

p.S511*

c.1532C>G

1 paper

NM_031431.4

p.E512K

c.1534G>A

1 paper

NM_031431.4

p.L537L

c.1611C>G

1 paper

NM_031431.4

p.T557T

c.1671G>A

1 paper

NM_031431.4

p.M494T

c.1481T>C

1 paper

NM_031431.4

p.A482S

c.1444G>T

1 paper

NM_031431.4

p.T477M

c.1430C>T

1 paper

NM_031431.4

p.I476I

c.1428C>A

1 paper

NM_031431.4

p.Y471N

c.1411T>A