GALNT2 c.311T>C ;(p.F104S)

Variant ID: 1-230338973-T-C

NM_004481.3(GALNT2):c.311T>C;(p.F104S)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Molecular Recognition of GalNAc in Mucin-Type O-Glycosylation.

Accounts Of Chemical Research
Sanz-Martinez, Ignacio I; Pereira, Sandra S; Merino, Pedro P; Corzana, Francisco F; Hurtado-Guerrero, Ramon R
Publication Date: 2023-02-23

Variant appearance in text: GalNAc-T2: F104S
PubMed Link: 36815693
Variant Present in the following documents:
  • Main text
  • ar2c00723.pdf
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Role of GALNT2 on Insulin Sensitivity, Lipid Metabolism and Fat Homeostasis.

International Journal Of Molecular Sciences
Antonucci, Alessandra A; Marucci, Antonella A; Trischitta, Vincenzo V; Di Paola, Rosa R
Publication Date: 2022-01-15

Variant appearance in text: GALNT2: Phe104Ser
PubMed Link: 35055114
Variant Present in the following documents:
  • Main text
  • ijms-23-00929.pdf
View BVdb publication page



Role of GALNT2 on Insulin Sensitivity, Lipid Metabolism and Fat Homeostasis.

International Journal Of Molecular Sciences
Antonucci, Alessandra A; Marucci, Antonella A; Trischitta, Vincenzo V; Di Paola, Rosa R
Publication Date: 2022-01-15

Variant appearance in text: GALNT2: Phe104Ser
PubMed Link: 35055114
Variant Present in the following documents:
  • Main text
  • ijms-23-00929.pdf
View BVdb publication page



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: Phe104Ser
PubMed Link: 34576978
Variant Present in the following documents:
  • Main text
  • molecules-26-05504.pdf
View BVdb publication page



UDP-N-acetyl-α-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase from the snail Biomphalaria glabrata - structural reflections.

Glycoconjugate Journal
Turupcu, Aysegül A; Poliak, Peter P; Margreitter, Christian C; Oostenbrink, Chris C; Staudacher, Erika E
Publication Date: 2020-02

Variant appearance in text: GalNAc-T2: Phe104Ser
PubMed Link: 31396754
Variant Present in the following documents:
  • Main text
  • 10719_2019_Article_9886.pdf
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Polypeptide GalNAc-Ts: from redundancy to specificity.

Current Opinion In Structural Biology
de Las Rivas, Matilde M; Lira-Navarrete, Erandi E; Gerken, Thomas A TA; Hurtado-Guerrero, Ramon R
Publication Date: 2019-06

Variant appearance in text: GalNAc-T2: Phe104Ser
PubMed Link: 30703750
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: GalNAc-T2: Phe104Ser
PubMed Link: 27508872
Variant Present in the following documents:
  • Main text
View BVdb publication page