Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.E28K

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.E28K
c.82G>A
Surrounding Variants
1 paper
NM_000345.4
p.E28Q
c.82G>C
2 papers
NM_000345.4
p.V26_A27insFs
c.78_79insG
1 paper
NM_000345.4
p.A27E
c.80C>A
3 papers
NM_000345.4
p.E28_A29insFs
c.84_85insG
2 papers
NM_000345.4
p.E28_A29insFs
c.84_85insGG
1 paper
NM_000345.4
p.E28_A29insFs
c.84_85insGC
43 papers
NM_000345.4
p.A29S
c.85G>T
1 paper
NM_000345.4
p.A27S
c.79G>T
2 papers
NM_000345.4
p.A29P
c.85G>C
2 papers
NM_000345.4
p.A27P
c.79G>C
2 papers
NM_000345.4
p.A29T
c.85G>A
1 paper
NM_000345.4
p.A27T
c.79G>A
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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."