Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.A11P

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
4 papers
NM_000345.4
p.A11P
c.31G>C
Surrounding Variants
3 papers
NM_000345.4
p.A11S
c.31G>T
1 paper
NM_000345.4
p.K10N
c.30G>C
4 papers
NM_000345.4
p.K10M
c.29A>T
2 papers
NM_000345.4
p.K10R
c.29A>G
1 paper
NM_000345.4
p.K10T
c.29A>C
2 papers
NM_000345.4
p.K12E
c.34A>G
2 papers
NM_000345.4
p.K10E
c.28A>G
2 papers
NM_000345.4
p.K10Q
c.28A>C
1 paper
NM_000345.4
p.K12Q
c.34A>C
12 papers
NM_000345.4
p.K12M
c.35A>T
2 papers
NM_000345.4
p.S9S
c.27A>T
4 papers
NM_000345.4
p.K12R
c.35A>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."