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

4 papers

NM_031431.4

p.L825S

c.2474T>C

Surrounding Variants

2 papers

NM_031431.4

p.L825delins

c.2474_2475delinsCA

1 paper

NM_031431.4

p.V826A

c.2477T>C

1 paper

NM_031431.4

p.C814S

c.2440T>A

1 paper

NM_031431.4

p.Q810H

c.2430G>C

1 paper

NM_031431.4

p.Q810H

c.2430G>T

1 paper

NM_031431.4

p.E802E

c.2406A>G

1 paper

NM_031431.4

p.R766T

c.2297G>C

2 papers

NM_031431.4

p.A753Fs

c.2257delinsAAFs

3 papers

NM_031431.4

p.N747S

c.2240A>G

1 paper

NM_031431.4

p.A744S

c.2230G>T

2 papers

NM_031431.4

p.Q738*

c.2212C>T

1 paper

NM_031431.4

p.K718_V719Splc

c.2155-10C>T