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SNCA c.208G>A ;(p.V70M)
Variant ID: 4-90743495-C-T
NM_000345.3(
SNCA
):c.208G>A;(p.V70M)
This variant was identified in 9 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
From cradle to grave: neurogenesis, neuroregeneration and neurodegeneration in Alzheimer's and Parkinson's diseases.
Neural Regeneration Research
Wakhloo, Debia D; Oberhauser, Jane J; Madira, Angela A; Mahajani, Sameehan S
Publication Date: 2022-12
Variant appearance in text: SNCA: V70M
PubMed Link:
35662189
Variant Present in the following documents:
Main text
NRR-17-2606.pdf
View BVdb publication page
Structural and Functional Insights into α-Synuclein Fibril Polymorphism.
Biomolecules
Mehra, Surabhi S; Gadhe, Laxmikant L; Bera, Riya R; Sawner, Ajay Singh AS; Maji, Samir K SK
Publication Date: 2021-09-28
Variant appearance in text: NACP: V70M
PubMed Link:
34680054
Variant Present in the following documents:
Main text
biomolecules-11-01419.pdf
View BVdb publication page
Excess membrane binding of monomeric alpha-, beta- and gamma-synuclein is invariably associated with inclusion formation and toxicity.
Human Molecular Genetics
Kim, Tae-Eun TE; Newman, Andrew J AJ; Imberdis, Thibaut T; Brontesi, Lisa L; Tripathi, Arati A; Ramalingam, Nagendran N; Fanning, Saranna S; Selkoe, Dennis D; Dettmer, Ulf U
Publication Date: 2021-11-16
Variant appearance in text: NACP: V70M
PubMed Link:
34254125
Variant Present in the following documents:
ddab188.pdf
View BVdb publication page
Alternative Splicing of Alpha- and Beta-Synuclein Genes Plays Differential Roles in Synucleinopathies.
Genes
Gámez-Valero, Ana A; Beyer, Katrin K
Publication Date: 2018-01-25
Variant appearance in text: SNCA: V70M
PubMed Link:
29370097
Variant Present in the following documents:
Main text
View BVdb publication page
Unveiling a Selective Mechanism for the Inhibition of α-Synuclein Aggregation by β-Synuclein.
International Journal Of Molecular Sciences
Leitao, Andre A; Bhumkar, Akshay A; Hunter, Dominic J B DJB; Gambin, Yann Y; Sierecki, Emma E
Publication Date: 2018-01-24
Variant appearance in text: SNCA: V70M
PubMed Link:
29364143
Variant Present in the following documents:
Main text
ijms-19-00334.pdf
View BVdb publication page
Molecular Genetics of Neurodegenerative Dementias.
Cold Spring Harbor Perspectives In Biology
Hinz, Flora I FI; Geschwind, Daniel H DH
Publication Date: 2017-04-03
Variant appearance in text: SNCA: V70M
PubMed Link:
27940516
Variant Present in the following documents:
Main text
View BVdb publication page
UPDATE ON DEMENTIA WITH LEWY BODIES.
Current Translational Geriatrics And Experimental Gerontology Reports
Karantzoulis, Stella S; Galvin, James E JE
Publication Date: 2013-09-01
Variant appearance in text: SNCA: V70M
PubMed Link:
25379359
Variant Present in the following documents:
Main text
View BVdb publication page
Can we clinically diagnose dementia with Lewy bodies yet?
Translational Neurodegeneration
Huang, Yue Y; Halliday, Glenda G
Publication Date: 2013-02-11
Variant appearance in text: SNCA: V70M
PubMed Link:
23398715
Variant Present in the following documents:
Main text
2047-9158-2-4.pdf
View BVdb publication page
Molecular pathology of Lewy body diseases.
International Journal Of Molecular Sciences
Beyer, Katrin K; Domingo-Sàbat, Montserrat M; Ariza, Aurelio A
Publication Date: 2009-03
Variant appearance in text: SNCA: V70M
PubMed Link:
19399218
Variant Present in the following documents:
Main text
ijms-10-00724.pdf
View BVdb publication page