Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.E13D

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.E13D
c.39G>C
Surrounding Variants
2 papers
NM_000345.4
p.E13D
c.39G>T
1 paper
NM_000345.4
p.D2_K12del11
c.4_35del33
6 papers
NM_000345.4
p.G14R
c.40G>C
7 papers
NM_000345.4
p.G14R
c.40G>A
2 papers
NM_000345.4
p.E13G
c.38A>G
1 paper
NM_000345.4
p.E13*
c.37G>T
3 papers
NM_000345.4
p.G14A
c.41G>C
2 papers
NM_000345.4
p.E13Q
c.37G>C
2 papers
NM_000345.4
p.E13K
c.37G>A
1 paper
NM_000345.4
p.K12N
c.36G>C
1 paper
NM_000345.4
p.K12delFs
c.35delT
2 papers
NM_000345.4
p.G14G
c.42A>T
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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."