APOE c.394C>T ;(p.R132C)

Variant ID: 19-45411947-C-T

NM_000041.2(APOE):c.394C>T;(p.R132C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Orthogonal analysis of variants in APOE gene using in-silico approaches reveals novel disrupting variants.

Frontiers In Bioinformatics
Li, Chang C; Hou, Ian I; Ma, Mingjia M; Wang, Grace G; Bai, Yongsheng Y; Liu, Xiaoming X
Publication Date: 2023

Variant appearance in text: APOE: R132C
PubMed Link: 37091907
Variant Present in the following documents:
  • Main text
  • fbinf-03-1122559.pdf
View BVdb publication page



Methodological quality assessment of genetic studies on brain arteriovenous malformation related hemorrhage: A cross-sectional study.

Frontiers In Genetics
Jiang, Junhao J; Qin, Zhuo Z; Yan, Junxia J; Liu, Junyu J
Publication Date: 2023

Variant appearance in text: rs11542041
PubMed Link: 37065486
Variant Present in the following documents:
  • Main text
  • fgene-14-1123898.pdf
View BVdb publication page



Genomic characterization of co-existing neoplasia and carcinoma lesions reveals distinct evolutionary paths of gallbladder cancer.

Nature Communications
Lin, Jianzhen J; Peng, Xinxin X; Dong, Kun K; Long, Junyu J; Guo, Xuejiao X; Li, Hongyue H; Bai, Yi Y; Yang, Xu X; Wang, Dongxu D; Lu, Xin X; Mao, Yilei Y; Sang, Xinting X; Ji, Xuwo X; Zhao, Haitao H; Liang, Han H
Publication Date: 2021-08-06

Variant appearance in text: APOE: R132C
PubMed Link: 34362903
Variant Present in the following documents:
  • 41467_2021_25012_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America.

Diagnostic Pathology
da Silveira-Neto, Joaquim Nelito JN; de Oliveira Ahn, Guilherme Jinson GJ; de Menezes Neves, Precil Diego Miranda PDM; Baptista, Vinicius Augusto Ferreira VAF; de Almeida Araújo, Stanley S; Wanderley, David Campos DC; Watanabe, Andréia A; Watanabe, Elieser Hitoshi EH; Murai, Neide Missae NM; Bertollo, Eny Maria Goloni EMG; Vieira-Neto, Osvaldo Merege OM; Dantas, Márcio M; de Antônio, Sergio Ricardo SR; Costa, Roberto Silva RS; Baptista, Maria Alice Sperto Ferreira MASF; Moysés-Neto, Miguel M; Onuchic, Luiz Fernando LF
Publication Date: 2021-07-26

Variant appearance in text: APOE: 394C>T; R132C
PubMed Link: 34311745
Variant Present in the following documents:
  • Main text
  • 13000_2021_Article_1119.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: rs11542041
PubMed Link: 30076208
Variant Present in the following documents:
  • 10.1194_P086710_jlr.P086710-4.xlsx, sheet 3
View BVdb publication page