Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.E46delFs

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.E46delFs
c.137delT
Surrounding Variants
1 paper
NM_000345.4
p.G47R
c.139G>C
2 papers
NM_000345.4
p.G47R
c.139G>A
2 papers
NM_000345.4
p.E46V
c.137A>T
2 papers
NM_000345.4
p.E46G
c.137A>G
3 papers
NM_000345.4
p.E46A
c.137A>C
1 paper
NM_000345.4
p.G47V
c.140G>T
1 paper
NM_000345.4
p.G47A
c.140G>C
1180 papers
NM_000345.4
p.E46K
c.136G>A
1 paper
NM_000345.4
p.K45N
c.135G>T
1 paper
NM_000345.4
p.K45N
c.135G>C
10 papers
NM_000345.4
p.K45R
c.134A>G
4 papers
NM_000345.4
p.K45E
c.133A>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."