Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.A85T

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.A85T
c.253G>A
Surrounding Variants
1 paper
NM_000345.4
p.A85P
c.253G>C
3 papers
NM_000345.4
p.A85V
c.254C>T
1 paper
NM_000345.4
p.G84G
c.252A>G
1 paper
NM_000345.4
p.G84V
c.251G>T
1 paper
NM_000345.4
p.G86R
c.256G>C
1 paper
NM_000345.4
p.G84R
c.250G>C
1 paper
NM_000345.4
p.G86R
c.256G>A
1 paper
NM_000345.4
p.G84R
c.250G>A
9 papers
NM_000345.4
p.A85delFs
c.255delT
1 paper
NM_000345.4
p.E83V
c.248A>T
2 papers
NM_000345.4
p.E83G
c.248A>G
6 papers
NM_000345.4
p.E83A
c.248A>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."