Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.V16L

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
Selected Variant
1 paper
NM_000345.4
p.V16L
c.46G>T
Surrounding Variants
1 paper
NM_000345.4
p.V16M
c.46G>A
2 papers
NM_000345.4
p.V16A
c.47T>C
26 papers
NM_000345.4
p.V15A
c.44T>C
4 papers
NM_000345.4
p.V15D
c.44T>A
1 paper
NM_000345.4
p.V16V
c.48G>A
2 papers
NM_000345.4
p.A17T
c.49G>A
2 papers
NM_000345.4
p.V15I
c.43G>A
1 paper
NM_000345.4
p.A17G
c.50C>G
1 paper
NM_000345.4
p.A17D
c.50C>A
2 papers
NM_000345.4
p.G14G
c.42A>T
1 paper
NM_000345.4
p.G14_V15insFs
c.42_43insG
3 papers
NM_000345.4
p.G14A
c.41G>C
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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."