Varaico: Literature-Extracted Genetic Variants

Gene:SNCA

SNCA

4,547 papers

RefSeq Summary

Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase...

Pfam Domains

Synucleinaa 1–131UCSCSynuclein

Gene Aliases

HGNC Name

synuclein alpha

HGNC Previous Symbols

PARK1; PARK4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 636 variants
2731 papers
NM_000345.4
p.A53T
c.157G>A
1895 papers
NM_000345.4
p.A30P
c.88G>C
1180 papers
NM_000345.4
p.E46K
c.136G>A
484 papers
NM_000345.4
p.G51D
c.152G>A
448 papers
NM_000345.4
p.H50Q
c.150T>G
448 papers
NM_000345.4
p.H50Q
c.150T>A
285 papers
NM_000345.4
p.A53E
c.158C>A
109 papers
NM_000345.4
p.S129A
c.385T>G
80 papers
NM_000345.4
p.A53V
c.158C>T
51 papers
NM_000345.4
p.K6N
c.18A>T
50 papers
NM_000345.4
p.A18T
c.52G>A
45 papers
NM_000345.4
p.A30G
c.89C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."