Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.E123A

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.E123A
c.368A>C
Surrounding Variants
1 paper
NM_000345.4
p.E123V
c.368A>T
1 paper
NM_000345.4
p.N122N
c.366T>C
2 papers
NM_000345.4
p.A124S
c.370G>T
5 papers
NM_000345.4
p.A124T
c.370G>A
8 papers
NM_000345.4
p.N122S
c.365A>G
2 papers
NM_000345.4
p.N122T
c.365A>C
1 paper
NM_000345.4
p.N122D
c.364A>G
2 papers
NM_000345.4
p.Y125D
c.373T>G
1 paper
NM_000345.4
p.D121E
c.363C>G
2 papers
NM_000345.4
p.D121E
c.363C>A
16 papers
NM_000345.4
p.Y125F
c.374A>T
9 papers
NM_000345.4
p.D121G
c.362A>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."