Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.V66G

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.V66G
c.197T>G
Surrounding Variants
4 papers
NM_000345.4
p.V66D
c.197T>A
2 papers
NM_000345.4
p.V66F
c.196G>T
4 papers
NM_000345.4
p.V66L
c.196G>C
3 papers
NM_000345.4
p.V66I
c.196G>A
1 paper
NM_000345.4
p.N65K
c.195T>G
2 papers
NM_000345.4
p.N65N
c.195T>C
1 paper
NM_000345.4
p.N65K
c.195T>A
1 paper
NM_000345.4
p.G67R
c.199G>C
2 papers
NM_000345.4
p.G67R
c.199G>A
1 paper
NM_000345.4
p.N65_V66del2
c.193_197del6
1 paper
NM_000345.4
p.N65S
c.194A>G
2 papers
NM_000345.4
p.N65H
c.193A>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."