APOB c.1648G>C ;(p.D550H)

Variant ID: 2-21251380-C-G

NM_000384.2(APOB):c.1648G>C;(p.D550H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine
Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z
Publication Date: 2022-07

Variant appearance in text: APOB: 1648G>C; D550H; rs145862664
PubMed Link: 35665681
Variant Present in the following documents:
  • mmc26.xlsx, sheet 1
View BVdb publication page



Genetics and Epigenetics of Atopic Dermatitis: An Updated Systematic Review.

Genes
Martin, Maria J MJ; Estravís, Miguel M; García-Sánchez, Asunción A; Dávila, Ignacio I; Isidoro-García, María M; Sanz, Catalina C
Publication Date: 2020-04-18

Variant appearance in text: rs145862664
PubMed Link: 32325630
Variant Present in the following documents:
  • Main text
  • genes-11-00442.pdf
View BVdb publication page



Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.

Journal Of Atherosclerosis And Thrombosis
Matsunaga, Akira A; Nagashima, Mariko M; Yamagishi, Hideko H; Saku, Keijiro K
Publication Date: 2020-12-01

Variant appearance in text: APOB: 1648G>C; D550H; rs145862664
PubMed Link: 32115487
Variant Present in the following documents:
  • Main text
  • jat-27-1264.pdf
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: APOB: D550H; rs145862664
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x4.xls, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: APOB: 1648G>C; D550H
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page