SNCA c.44T>C ;(p.V15A)

Variant ID: 4-90756775-A-G

NM_000345.3(SNCA):c.44T>C;(p.V15A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


α-Synuclein V15A Variant in Familial Parkinson's Disease Exhibits a Weaker Lipid-Binding Property.

Movement Disorders : Official Journal Of The Movement Disorder Society
Daida, Kensuke K; Shimonaka, Shotaro S; Shiba-Fukushima, Kahori K; Ogata, Jun J; Yoshino, Hiroyo H; Okuzumi, Ayami A; Hatano, Taku T; Motoi, Yumiko Y; Hirunagi, Tomoki T; Katsuno, Masahisa M; Shindou, Hideo H; Funayama, Manabu M; Nishioka, Kenya K; Hattori, Nobutaka N; Imai, Yuzuru Y
Publication Date: 2022-10

Variant appearance in text: SNCA: V15A
PubMed Link: 35894540
Variant Present in the following documents:
  • Main text
  • MDS-37-2075-s001.pdf
  • MDS-37-2075.pdf
View BVdb publication page



A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease.

Parkinsonism & Related Disorders
Fevga, Christina C; Park, Yangshin Y; Lohmann, Ebba E; Kievit, Anneke J AJ; Breedveld, Guido J GJ; Ferraro, Federico F; de Boer, Leon L; van Minkelen, Rick R; Hanagasi, Hasmet H; Boon, Agnita A; Wang, Wei W; Petsko, Gregory A GA; Hoang, Quyen Q QQ; Emre, Murat M; Bonifati, Vincenzo V
Publication Date: 2021-08

Variant appearance in text: SNCA: Val15Ala
PubMed Link: 34229155
Variant Present in the following documents:
  • Main text
  • nihms-1752483.pdf
View BVdb publication page



Parkin and PINK1 mitigate STING-induced inflammation.

Nature
Sliter, Danielle A DA; Martinez, Jennifer J; Hao, Ling L; Chen, Xi X; Sun, Nuo N; Fischer, Tara D TD; Burman, Jonathon L JL; Li, Yan Y; Zhang, Zhe Z; Narendra, Derek P DP; Cai, Huaibin H; Borsche, Max M; Klein, Christine C; Youle, Richard J RJ
Publication Date: 2018-09

Variant appearance in text: SNCA: 44T>C; Val15Ala
PubMed Link: 30135585
Variant Present in the following documents:
  • NIHMS1500754-supplement-2.pdf
View BVdb publication page