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SNCA c.286_288delinsTGT ;(p.K96C)
Variant ID: 4-90743415-TTT-ACA
NM_000345.3(
SNCA
):c.286_288delinsTGT;(p.K96C)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Role of post-translational modifications on the alpha-synuclein aggregation-related pathogenesis of Parkinson's disease.
Bmb Reports
Yoo, Hajung H; Lee, Jeongmin J; Kim, Bokwang B; Moon, Heechang H; Jeong, Huisu H; Lee, Kyungmi K; Song, Woo Jeung WJ; Hur, Junho K JK; Oh, Yohan Y
Publication Date: 2022-07
Variant appearance in text: SNCA: K96C
PubMed Link:
35733294
Variant Present in the following documents:
bmb-55-7-323.pdf
View BVdb publication page
Modulation of the Interactions Between α-Synuclein and Lipid Membranes by Post-translational Modifications.
Frontiers In Neurology
Bell, Rosie R; Vendruscolo, Michele M
Publication Date: 2021
Variant appearance in text: SNCA: K96C
PubMed Link:
34335440
Variant Present in the following documents:
Main text
fneur-12-661117.pdf
View BVdb publication page