COG8 c.1611C>G ;(p.Y537*)

Variant ID: 16-69364970-G-C

NM_032382.4(COG8):c.1611C>G;(p.Y537*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: COG8: 1611C>G; Tyr537Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation.

Cells
D'Souza, Zinia Z; Sumya, Farhana Taher FT; Khakurel, Amrita A; Lupashin, Vladimir V
Publication Date: 2021-11-23

Variant appearance in text: COG8: 1611C>G; Y537X
PubMed Link: 34943782
Variant Present in the following documents:
  • Main text
  • cells-10-03275.pdf
View BVdb publication page



Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation.

Cells
D'Souza, Zinia Z; Sumya, Farhana Taher FT; Khakurel, Amrita A; Lupashin, Vladimir V
Publication Date: 2021-11-23

Variant appearance in text: COG8: 1611C>G; Y537X
PubMed Link: 34943782
Variant Present in the following documents:
  • Main text
  • cells-10-03275.pdf
View BVdb publication page



Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.

Diagnostics (Basel, Switzerland)
Lipiński, Patryk P; Stępień, Karolina M KM; Ciara, Elżbieta E; Tylki-Szymańska, Anna A; Jezela-Stanek, Aleksandra A
Publication Date: 2021-08-09

Variant appearance in text: COG8: 1611C>G; Tyr537*
PubMed Link: 34441372
Variant Present in the following documents:
  • Main text
  • diagnostics-11-01438.pdf
View BVdb publication page



Golgi inCOGnito: From vesicle tethering to human disease.

Biochimica Et Biophysica Acta. General Subjects
D'Souza, Zinia Z; Taher, Farhana S FS; Lupashin, Vladimir V VV
Publication Date: 2020-11

Variant appearance in text: COG8: 1611C>G; Y537X
PubMed Link: 32730773
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.

International Journal Of Molecular Sciences
Linders, Peter T A PTA; Peters, Ella E; Ter Beest, Martin M; Lefeber, Dirk J DJ; van den Bogaart, Geert G
Publication Date: 2020-06-30

Variant appearance in text: COG8: Y537X
PubMed Link: 32629928
Variant Present in the following documents:
  • Main text
  • ijms-21-04654.pdf
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: COG8: 1611C>G; Tyr537*; rs121434387
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Golgi function and dysfunction in the first COG4-deficient CDG type II patient.

Human Molecular Genetics
Reynders, Ellen E; Foulquier, François F; Leão Teles, Elisa E; Quelhas, Dulce D; Morelle, Willy W; Rabouille, Cathérine C; Annaert, Wim W; Matthijs, Gert G
Publication Date: 2009-09-01

Variant appearance in text: COG8: 1611C>G; Y537X
PubMed Link: 19494034
Variant Present in the following documents:
  • Main text
  • ddp262_1.pdf
  • ddp262.pdf
View BVdb publication page