GALNT2 c.1000G>C ;(p.E334Q)

Variant ID: 1-230386297-G-C

NM_004481.3(GALNT2):c.1000G>C;(p.E334Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: Glu334Gln
PubMed Link: 27508872
Variant Present in the following documents:
  • Main text
View BVdb publication page



A computational and experimental study of O-glycosylation. Catalysis by human UDP-GalNAc polypeptide:GalNAc transferase-T2.

Organic & Biomolecular Chemistry
Gómez, Hansel H; Rojas, Raúl R; Patel, Divya D; Tabak, Lawrence A LA; Lluch, José M JM; Masgrau, Laura L
Publication Date: 2014-05-07

Variant appearance in text: GalNAc-T2: E334Q
PubMed Link: 24643241
Variant Present in the following documents:
  • Main text
View BVdb publication page