SNCA c.274_275delinsCT ;(p.T92L)

Variant ID: 4-90743428-GT-AG

NM_000345.3(SNCA):c.274_275delinsCT;(p.T92L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Loss of native α-synuclein multimerization by strategically mutating its amphipathic helix causes abnormal vesicle interactions in neuronal cells.

Human Molecular Genetics
Dettmer, Ulf U; Ramalingam, Nagendran N; von Saucken, Victoria E VE; Kim, Tae-Eun TE; Newman, Andrew J AJ; Terry-Kantor, Elizabeth E; Nuber, Silke S; Ericsson, Maria M; Fanning, Saranna S; Bartels, Tim T; Lindquist, Susan S; Levy, Oren A OA; Selkoe, Dennis D
Publication Date: 2017-09-15

Variant appearance in text: SNCA: T92L
PubMed Link: 28911198
Variant Present in the following documents:
  • Main text
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