Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.S9L

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
2 papers
NM_000345.4
p.S9L
c.26C>T
Surrounding Variants
2 papers
NM_000345.4
p.S9S
c.27A>T
2 papers
NM_000345.4
p.L8L
c.24T>C
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.L8insFs
c.23_24insC
1 paper
NM_000345.4
p.L8P
c.23T>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
1 paper
NM_000345.4
p.K10N
c.30G>C
3 papers
NM_000345.4
p.L8F
c.22C>T
1 paper
NM_000345.4
p.L8V
c.22C>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."