Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.E105delFs

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.E105delFs
c.313_314delTC
Surrounding Variants
7 papers
NM_000345.4
p.E105D
c.315A>T
2 papers
NM_000345.4
p.G106R
c.316G>C
1 paper
NM_000345.4
p.G106R
c.316G>A
5 papers
NM_000345.4
p.E105A
c.314A>C
1 paper
NM_000345.4
p.E105delFs
c.313delC
1 paper
NM_000345.4
p.E105K
c.313G>A
2 papers
NM_000345.4
p.E104D
c.312A>T
1 paper
NM_000345.4
p.G106G
c.318A>G
2 papers
NM_000345.4
p.E104D
c.312A>C
1 paper
NM_000345.4
p.A107P
c.319G>C
5 papers
NM_000345.4
p.E104A
c.311A>C
1 paper
NM_000345.4
p.E104K
c.310G>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."