Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.V71A

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.V71A
c.212T>C
Surrounding Variants
1 paper
NM_000345.4
p.V71L
c.211G>C
1 paper
NM_000345.4
p.V71M
c.211G>A
1 paper
NM_000345.4
p.V70delFs
c.209delA
1 paper
NM_000345.4
p.T72S
c.214A>T
5 papers
NM_000345.4
p.T72A
c.214A>G
8 papers
NM_000345.4
p.T72P
c.214A>C
2 papers
NM_000345.4
p.V70G
c.209T>G
1 paper
NM_000345.4
p.V70A
c.209T>C
2 papers
NM_000345.4
p.V70E
c.209T>A
1 paper
NM_000345.4
p.V70delFs
c.208delC
17 papers
NM_000345.4
p.T72M
c.215C>T
1 paper
NM_000345.4
p.T72R
c.215C>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."