ANGPTL4 c.547+1G>A

Variant ID: 19-8431204-G-A

NM_139314.1(ANGPTL4):c.547+1G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17

Variant appearance in text: rs368451562
PubMed Link: 36124685
Variant Present in the following documents:
  • noac220_suppl_supplementary_table_s3.xlsx, sheet 1
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: ANGPTL4: 547+1G>A; rs368451562
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

Nature Communications
Gusarova, Viktoria V; O'Dushlaine, Colm C; Teslovich, Tanya M TM; Benotti, Peter N PN; Mirshahi, Tooraj T; Gottesman, Omri O; Van Hout, Cristopher V CV; Murray, Michael F MF; Mahajan, Anubha A; Nielsen, Jonas B JB; Fritsche, Lars L; Wulff, Anders Berg AB; Gudbjartsson, Daniel F DF; Sjögren, Marketa M; Emdin, Connor A CA; Scott, Robert A RA; Lee, Wen-Jane WJ; Small, Aeron A; Kwee, Lydia C LC; Dwivedi, Om Prakash OP; Prasad, Rashmi B RB; Bruse, Shannon S; Lopez, Alexander E AE; Penn, John J; Marcketta, Anthony A; Leader, Joseph B JB; Still, Christopher D CD; Kirchner, H Lester HL; Mirshahi, Uyenlinh L UL; Wardeh, Amr H AH; Hartle, Cassandra M CM; Habegger, Lukas L; Fetterolf, Samantha N SN; Tusie-Luna, Teresa T; Morris, Andrew P AP; Holm, Hilma H; Steinthorsdottir, Valgerdur V; Sulem, Patrick P; Thorsteinsdottir, Unnur U; Rotter, Jerome I JI; Chuang, Lee-Ming LM; Damrauer, Scott S; Birtwell, David D; Brummett, Chad M CM; Khera, Amit V AV; Natarajan, Pradeep P; Orho-Melander, Marju M; Flannick, Jason J; Lotta, Luca A LA; Willer, Cristen J CJ; Holmen, Oddgeir L OL; Ritchie, Marylyn D MD; Ledbetter, David H DH; Murphy, Andrew J AJ; Borecki, Ingrid B IB; Reid, Jeffrey G JG; Overton, John D JD; Hansson, Ola O; Groop, Leif L; Shah, Svati H SH; Kraus, William E WE; Rader, Daniel J DJ; Chen, Yii-Der I YI; Hveem, Kristian K; Wareham, Nicholas J NJ; Kathiresan, Sekar S; Melander, Olle O; Stefansson, Kari K; Nordestgaard, Børge G BG; Tybjærg-Hansen, Anne A; Abecasis, Goncalo R GR; Altshuler, David D; Florez, Jose C JC; Boehnke, Michael M; McCarthy, Mark I MI; Yancopoulos, George D GD; Carey, David J DJ; Shuldiner, Alan R AR; Baras, Aris A; Dewey, Frederick E FE; Gromada, Jesper J
Publication Date: 2018-06-13

Variant appearance in text: ANGPTL4: 547+1G>A
PubMed Link: 29899519
Variant Present in the following documents:
  • 41467_2018_4611_MOESM1_ESM.pdf
View BVdb publication page