APOE c.644C>G ;(p.S215C)

Variant ID: 19-45412197-C-G

NM_000041.2(APOE):c.644C>G;(p.S215C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Membranous Nephropathy-Like Apolipoprotein E Deposition Disease with Apolipoprotein E Toyonaka and Homozygous Apolipoprotein E2/2 without Dyslipidemia, with Characteristic Electron-Dense Deposits.

Case Reports In Nephrology And Dialysis
Koshino, Akihiko A; Takaeda, Chikako C; Matsuno, Takahiro T; Kitajima, Shinji S; Iwata, Yasunori Y; Sakai, Norihiko N; Nagahama, Kiyotaka K; Niida, Yo Y; Saito, Takao T; Yokoyama, Hitoshi H; Wada, Takashi T
Publication Date: 2022

Variant appearance in text: APOE: 644C>G
PubMed Link: 35950048
Variant Present in the following documents:
  • Main text
  • cnd-0012-0096.pdf
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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: 644C>G
PubMed Link: 34311745
Variant Present in the following documents:
  • Main text
  • 13000_2021_Article_1119.pdf
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A case of apolipoprotein E Toyonaka and homozygous apolipoprotein E2/2 showing non-immune membranous nephropathy-like glomerular lesions with foamy changes.

Cen Case Reports
Kato, Tamayo T; Ushiogi, Yasuyuki Y; Yokoyama, Hitoshi H; Hara, Shigeo S; Matsunaga, Akira A; Muso, Eri E; Saito, Takao T
Publication Date: 2019-05

Variant appearance in text: APOE: 644C>G; S215C
PubMed Link: 30701487
Variant Present in the following documents:
  • Main text
View BVdb publication page



A case of nephrotic syndrome showing contemporary presence of apolipoprotein E2 homozygote glomerulopathy and membranous nephropathy-like findings modified by apolipoprotein E Toyonaka.

Clinical Nephrology. Case Studies
Hirashima, Hisako H; Komiya, Toshiyuki T; Toriu, Naoya N; Hara, Shigeo S; Matsunaga, Akira A; Saito, Takao T; Muso, Eri E
Publication Date: 2018

Variant appearance in text: APOE: 644C>G; S215C
PubMed Link: 30542638
Variant Present in the following documents:
  • Main text
  • CNCS-6-045.pdf
View BVdb publication page



Membranous Nephropathy-Like Apolipoprotein E Deposition Disease with Apolipoprotein E Toyonaka (Ser197Cys) and a Homozygous Apolipoprotein E2/2.

Case Reports In Nephrology And Dialysis
Fukunaga, Megumu M; Nagahama, Kiyotaka K; Aoki, Michiko M; Shimizu, Akira A; Hara, Shigeo S; Matsunaga, Akira A; Muso, Eri E; Saito, Takao T
Publication Date: 2018

Variant appearance in text: APOE: 644C>G; S215C
PubMed Link: 29692990
Variant Present in the following documents:
  • Main text
  • cnd-0008-0045.pdf
View BVdb publication page