SI c.2149G>A ;(p.V717I)

Variant ID: 3-164758738-C-T

NM_001041.3(SI):c.2149G>A;(p.V717I)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Modulation of L-type calcium channels in Alzheimer's disease: A potential therapeutic target.

Computational And Structural Biotechnology Journal
Crossley, Chelsea A CA; Rajani, Vishaal V; Yuan, Qi Q
Publication Date: 2023

Variant appearance in text: SI: V717I
PubMed Link: 36514335
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Significance of rare variants in genes involved in the pathogenesis of Lynch syndrome.

International Journal Of Molecular Medicine
Liccardo, Raffaella R; Lambiase, Matilde M; Nolano, Antonio A; De Rosa, Marina M; Izzo, Paola P; Duraturo, Francesca F
Publication Date: 2022-06

Variant appearance in text: SI: 2149G>A; Val717Met
PubMed Link: 35475445
Variant Present in the following documents:
  • ijmm-49-06-05137.pdf
View BVdb publication page



Homocysteine fibrillar assemblies display cross-talk with Alzheimer's disease β-amyloid polypeptide.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Sade Yazdi, Dorin D; Laor Bar-Yosef, Dana D; Adsi, Hanaa H; Kreiser, Topaz T; Sigal, Shahaf S; Bera, Santu S; Zaguri, Dor D; Shaham-Niv, Shira S; Oluwatoba, Damilola S DS; Levy, Davide D; Gartner, Myra M; Do, Thanh D TD; Frenkel, Dan D; Gazit, Ehud E
Publication Date: 2021-06-15

Variant appearance in text: SI: V717I
PubMed Link: 34099562
Variant Present in the following documents:
  • Main text
View BVdb publication page



Elovanoids counteract oligomeric β-amyloid-induced gene expression and protect photoreceptors.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Do, Khanh V KV; Kautzmann, Marie-Audrey I MI; Jun, Bokkyoo B; Gordon, William C WC; Nshimiyimana, Robert R; Yang, Rong R; Petasis, Nicos A NA; Bazan, Nicolas G NG
Publication Date: 2019-11-26

Variant appearance in text: SI: V717I
PubMed Link: 31712409
Variant Present in the following documents:
  • pnas.1912959116.sapp.pdf
View BVdb publication page



N,N'-Diacetyl-p-phenylenediamine restores microglial phagocytosis and improves cognitive defects in Alzheimer's disease transgenic mice.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Park, Min Hee MH; Lee, Misun M; Nam, Geewoo G; Kim, Mingeun M; Kang, Juhye J; Choi, Byung Jo BJ; Jeong, Min Seock MS; Park, Kang Ho KH; Han, Wan Hui WH; Tak, Eunyoung E; Kim, Min Sun MS; Lee, Juri J; Lin, Yuxi Y; Lee, Young-Ho YH; Song, Im-Sook IS; Choi, Min-Koo MK; Lee, Joo-Yong JY; Jin, Hee Kyung HK; Bae, Jae-Sung JS; Lim, Mi Hee MH
Publication Date: 2019-11-19

Variant appearance in text: SI: V717I
PubMed Link: 31685616
Variant Present in the following documents:
  • Main text
View BVdb publication page



A guanidine-appended scyllo-inositol derivative AAD-66 enhances brain delivery and ameliorates Alzheimer's phenotypes.

Scientific Reports
Lee, Dohyun D; Lee, Woo-Sirl WS; Lim, Sungsu S; Kim, Yun Kyung YK; Jung, Hoe-Yune HY; Das, Sanket S; Lee, Juhyun J; Luo, Wenjie W; Kim, Kyong-Tai KT; Chung, Sung-Kee SK
Publication Date: 2017-10-26

Variant appearance in text: SI: V717I
PubMed Link: 29074878
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_14559.pdf
View BVdb publication page