Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.E83A

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
6 papers
NM_000345.4
p.E83A
c.248A>C
Surrounding Variants
1 paper
NM_000345.4
p.E83V
c.248A>T
2 papers
NM_000345.4
p.E83G
c.248A>G
2 papers
NM_000345.4
p.E83*
c.247G>T
23 papers
NM_000345.4
p.E83Q
c.247G>C
4 papers
NM_000345.4
p.E83K
c.247G>A
1 paper
NM_000345.4
p.Q79_V82delFs
c.236_246del11
1 paper
NM_000345.4
p.G84R
c.250G>C
2 papers
NM_000345.4
p.V82V
c.246G>A
1 paper
NM_000345.4
p.G84R
c.250G>A
1 paper
NM_000345.4
p.V82insFs
c.244_245insG
1 paper
NM_000345.4
p.V82G
c.245T>G
6 papers
NM_000345.4
p.V82A
c.245T>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."