GALNT2 c.941A>C ;(p.D314A)

Variant ID: 1-230386238-A-C

NM_004481.3(GALNT2):c.941A>C;(p.D314A)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
Publication Date: 2023-01-17

Variant appearance in text: GALNT2: D314A
PubMed Link: 36652909
Variant Present in the following documents:
  • mmc4.xlsx, sheet 6
View BVdb publication page



Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: GALNT2: 941A>C; D314A
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 2
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: GalNAc-T2: Asp314Ala
PubMed Link: 34576978
Variant Present in the following documents:
  • Main text
  • molecules-26-05504.pdf
View BVdb publication page



GALNT2 regulates ANGPTL3 cleavage in cells and in vivo of mice.

Scientific Reports
Li, Xuedan X; Zhang, Yiliang Y; Zhang, Minzhu M; Wang, Yan Y
Publication Date: 2020-09-30

Variant appearance in text: GALNT2: D314A
PubMed Link: 32999434
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_73388.pdf
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: GALNT2: 941A>C; rs78164071
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: GALNT2: 941A>C; Asp314Ala
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13

Variant appearance in text: GALNT2: 941A>C; Asp314Ala; rs78164071
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: GALNT2: D314A; rs78164071
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM6_ESM.xlsx, sheet 1
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: GALNT2: D314A; rs78164071
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 4
  • 41467_2017_2688_MOESM20_ESM.xlsx, sheet 4
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: D314A
PubMed Link: 27508872
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple Hepatic Regulatory Variants at the GALNT2 GWAS Locus Associated with High-Density Lipoprotein Cholesterol.

American Journal Of Human Genetics
Roman, Tamara S TS; Marvelle, Amanda F AF; Fogarty, Marie P MP; Vadlamudi, Swarooparani S; Gonzalez, Arlene J AJ; Buchkovich, Martin L ML; Huyghe, Jeroen R JR; Fuchsberger, Christian C; Jackson, Anne U AU; Wu, Ying Y; Civelek, Mete M; Lusis, Aldons J AJ; Gaulton, Kyle J KJ; Sethupathy, Praveen P; Kangas, Antti J AJ; Soininen, Pasi P; Ala-Korpela, Mika M; Kuusisto, Johanna J; Collins, Francis S FS; Laakso, Markku M; Boehnke, Michael M; Mohlke, Karen L KL
Publication Date: 2015-12-03

Variant appearance in text: GALNT2: 941A>C; Asp314Ala
PubMed Link: 26637976
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of the variants and haplotypes in the DOCK7, PCSK9 and GALNT2 genes and the risk of hyperlipidaemia.

Journal Of Cellular And Molecular Medicine
Guo, Tao T; Yin, Rui-Xing RX; Lin, Wei-Xiong WX; Wang, Wei W; Huang, Feng F; Pan, Shang-Ling SL
Publication Date: 2016-02

Variant appearance in text: GALNT2: D314A
PubMed Link: 26493351
Variant Present in the following documents:
  • Main text
  • JCMM-20-243.pdf
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: GALNT2: D314A; rs78164071
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 10
  • pone.0123569.s008.xls, sheet 2
  • pone.0123569.s008.xls, sheet 11
  • pone.0123569.s008.xls, sheet 5
  • pone.0123569.s008.xls, sheet 6
View BVdb publication page



De novo mutations in moderate or severe intellectual disability.

Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10

Variant appearance in text: GALNT2: D314A; rs78164071
PubMed Link: 25356899
Variant Present in the following documents:
  • pgen.1004772.s004.xlsx, sheet 9
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: GALNT2: D314A; rs78164071
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 19
View BVdb publication page



A glycogene mutation map for discovery of diseases of glycosylation.

Glycobiology
Hansen, Lars L; Lind-Thomsen, Allan A; Joshi, Hiren J HJ; Pedersen, Nis Borbye NB; Have, Christian Theil CT; Kong, Yun Y; Wang, Shengjun S; Sparso, Thomas T; Grarup, Niels N; Vester-Christensen, Malene Bech MB; Schjoldager, Katrine K; Freeze, Hudson H HH; Hansen, Torben T; Pedersen, Oluf O; Henrissat, Bernard B; Mandel, Ulla U; Clausen, Henrik H; Wandall, Hans H HH; Bennett, Eric P EP
Publication Date: 2015-02

Variant appearance in text: GALNT2: Asp314Ala
PubMed Link: 25267602
Variant Present in the following documents:
  • Main text
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: GALNT2: D314A; rs78164071
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: rs78164071
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page



Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol.

Plos One
Tietjen, Ian I; Hovingh, G Kees GK; Singaraja, Roshni R RR; Radomski, Chris C; Barhdadi, Amina A; McEwen, Jason J; Chan, Elden E; Mattice, Maryanne M; Legendre, Annick A; Franchini, Patrick L PL; Dubé, Marie-Pierre MP; Kastelein, John J P JJ; Hayden, Michael R MR
Publication Date: 2012

Variant appearance in text: GALNT2: D314A
PubMed Link: 22952570
Variant Present in the following documents:
  • Main text
  • pone.0037437.pdf
View BVdb publication page



Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man.

Cell Metabolism
Holleboom, Adriaan G AG; Karlsson, Helen H; Lin, Ruei-Shiuan RS; Beres, Thomas M TM; Sierts, Jeroen A JA; Herman, Daniel S DS; Stroes, Erik S G ES; Aerts, Johannes M JM; Kastelein, John J P JJ; Motazacker, Mohammad M MM; Dallinga-Thie, Geesje M GM; Levels, Johannes H M JH; Zwinderman, Aeilko H AH; Seidman, Jonathan G JG; Seidman, Christine E CE; Ljunggren, Stefan S; Lefeber, Dirk J DJ; Morava, Eva E; Wevers, Ron A RA; Fritz, Timothy A TA; Tabak, Lawrence A LA; Lindahl, Mats M; Hovingh, G Kees GK; Kuivenhoven, Jan Albert JA
Publication Date: 2011-12-07

Variant appearance in text: GALNT2: 941A>C; D314A
PubMed Link: 22152306
Variant Present in the following documents:
  • Main text
View BVdb publication page