APOB c.11330C>A ;(p.S3777*)

Variant ID: 2-21228410-G-T

NM_000384.2(APOB):c.11330C>A;(p.S3777*)

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: 11330C>A; S3777X; rs748311841
PubMed Link: 35665681
Variant Present in the following documents:
  • mmc26.xlsx, sheet 1
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: APOB: 11330C>A; Ser3777Ter; rs748311841
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Interrogation of selected genes influencing serum LDL-Cholesterol levels in patients with well characterized NAFLD.

Journal Of Clinical Lipidology
Vilar-Gomez, Eduardo E; Gawrieh, Samer S; Liang, Tiebing T; McIntyre, Adam D AD; Hegele, Robert A RA; Chalasani, Naga N
Publication Date: 2021

Variant appearance in text: APOB: 11330C>A; S3777X
PubMed Link: 33454241
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease.

Circulation. Genomic And Precision Medicine
Peloso, Gina M GM; Nomura, Akihiro A; Khera, Amit V AV; Chaffin, Mark M; Won, Hong-Hee HH; Ardissino, Diego D; Danesh, John J; Schunkert, Heribert H; Wilson, James G JG; Samani, Nilesh N; Erdmann, Jeanette J; McPherson, Ruth R; Watkins, Hugh H; Saleheen, Danish D; McCarthy, Shane S; Teslovich, Tanya M TM; Leader, Joseph B JB; Lester Kirchner, H H; Marrugat, Jaume J; Nohara, Atsushi A; Kawashiri, Masa-Aki MA; Tada, Hayato H; Dewey, Frederick E FE; Carey, David J DJ; Baras, Aris A; Kathiresan, Sekar S
Publication Date: 2019-05

Variant appearance in text: APOB: Ser3777Ter
PubMed Link: 30939045
Variant Present in the following documents:
  • hcg-12-e002376-s001.pdf
View BVdb publication page



Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research
Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM
Publication Date: 2018-10

Variant appearance in text: APOB: 11330C>A; S3777X; rs748311841
PubMed Link: 30076208
Variant Present in the following documents:
  • 10.1194_P086710_jlr.P086710-3.xlsx, sheet 1
View BVdb publication page