Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.A19A

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.A19A
c.57T>A
Surrounding Variants
2 papers
NM_000345.4
p.A19delFs
c.56delG
1 paper
NM_000345.4
p.A19V
c.56C>T
1 paper
NM_000345.4
p.A19P
c.55G>C
1 paper
NM_000345.4
p.A19T
c.55G>A
1 paper
NM_000345.4
p.A18delFs
c.54delA
2 papers
NM_000345.4
p.E20V
c.59A>T
2 papers
NM_000345.4
p.E20G
c.59A>G
1 paper
NM_000345.4
p.A18A
c.54T>C
1 paper
NM_000345.4
p.A19_E20del1
c.57_59delTCA
1 paper
NM_000345.4
p.A18V
c.53C>T
2 papers
NM_000345.4
p.A18G
c.53C>G
4 papers
NM_000345.4
p.A18D
c.53C>A
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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."