Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.V40E

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.V40E
c.119T>A
Surrounding Variants
1 paper
NM_000345.4
p.V40V
c.120A>C
1 paper
NM_000345.4
p.V40_G41insFs
c.120_121insA
1 paper
NM_000345.4
p.G41Splc
c.121+1G>T
14 papers
NM_000345.4
p.G41Splc
c.121+1G>A
12 papers
NM_000345.4
p.Y39F
c.116A>T
12 papers
NM_000345.4
p.Y39C
c.116A>G
1 paper
NM_000345.4
p.Y39S
c.116A>C
1 paper
NM_000345.4
p.V37_L38delFs
c.109_113del5
2 papers
NM_000345.4
p.L38P
c.113T>C
1 paper
NM_000345.4
p.L38F
c.112C>T
3 papers
NM_000345.4
p.L38V
c.112C>G
1 paper
NM_000345.4
p.L38insFs
c.112_113ins5
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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."