Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.E61K

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
29 papers
NM_000345.4
p.E61K
c.181G>A
Surrounding Variants
1 paper
NM_000345.4
p.E61*
c.181G>T
2 papers
NM_000345.4
p.E61Q
c.181G>C
1 paper
NM_000345.4
p.E61V
c.182A>T
1 paper
NM_000345.4
p.E61G
c.182A>G
3 papers
NM_000345.4
p.E61A
c.182A>C
1 paper
NM_000345.4
p.K60_E61del1
c.180_182delTCT
1 paper
NM_000345.4
p.K60I
c.179A>T
3 papers
NM_000345.4
p.K60R
c.179A>G
1 paper
NM_000345.4
p.Q62K
c.184C>A
1 paper
NM_000345.4
p.K60_E61del2
c.178_182del6
1 paper
NM_000345.4
p.K60*
c.178A>T
3 papers
NM_000345.4
p.K60E
c.178A>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."