GALNT2 c.865C>T ;(p.Q289*)

Variant ID: 1-230384977-C-T

NM_004481.3(GALNT2):c.865C>T;(p.Q289*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Polypeptide N-acetylgalactosaminyltransferase-Associated Phenotypes in Mammals.

Molecules (Basel, Switzerland)
Kato, Kentaro K; Hansen, Lars L; Clausen, Henrik H
Publication Date: 2021-09-10

Variant appearance in text: GALNT2: Gln289*
PubMed Link: 34576978
Variant Present in the following documents:
  • Main text
  • molecules-26-05504.pdf
View BVdb publication page



Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.

Brain : A Journal Of Neurology
Zilmer, Monica M; Edmondson, Andrew C AC; Khetarpal, Sumeet A SA; Alesi, Viola V; Zaki, Maha S MS; Rostasy, Kevin K; Madsen, Camilla G CG; Lepri, Francesca R FR; Sinibaldi, Lorenzo L; Cusmai, Raffaella R; Novelli, Antonio A; Issa, Mahmoud Y MY; Fenger, Christina D CD; Abou Jamra, Rami R; Reutter, Heiko H; Briuglia, Silvana S; Agolini, Emanuele E; Hansen, Lars L; Petäjä-Repo, Ulla E UE; Hintze, John J; Raymond, Kimiyo M KM; Liedtke, Kristen K; Stanley, Valentina V; Musaev, Damir D; Gleeson, Joseph G JG; Vitali, Cecilia C; O'Brien, W Timothy WT; Gardella, Elena E; Rubboli, Guido G; Rader, Daniel J DJ; Schjoldager, Katrine T KT; Møller, Rikke S RS
Publication Date: 2020-04-01

Variant appearance in text: GALNT2: 865C>T; Gln289*
PubMed Link: 32293671
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents.

Cell Metabolism
Khetarpal, Sumeet A SA; Schjoldager, Katrine T KT; Christoffersen, Christina C; Raghavan, Avanthi A; Edmondson, Andrew C AC; Reutter, Heiko M HM; Ahmed, Bouhouche B; Ouazzani, Reda R; Peloso, Gina M GM; Vitali, Cecilia C; Zhao, Wei W; Somasundara, Amritha Varshini Hanasoge AV; Millar, John S JS; Park, YoSon Y; Fernando, Gayani G; Livanov, Valentin V; Choi, Seungbum S; Noé, Eric E; Patel, Pritesh P; Ho, Siew Peng SP; , ; Kirchgessner, Todd G TG; Wandall, Hans H HH; Hansen, Lars L; Bennett, Eric P EP; Vakhrushev, Sergey Y SY; Saleheen, Danish D; Kathiresan, Sekar S; Brown, Christopher D CD; Abou Jamra, Rami R; LeGuern, Eric E; Clausen, Henrik H; Rader, Daniel J DJ
Publication Date: 2016-08-09

Variant appearance in text: GALNT2: 865C>T
PubMed Link: 27508872
Variant Present in the following documents:
  • Main text
View BVdb publication page