Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.E35Q

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.E35Q
c.103G>C
Surrounding Variants
1 paper
NM_000345.4
p.E35*
c.103G>T
41 papers
NM_000345.4
p.E35K
c.103G>A
1 paper
NM_000345.4
p.K34delFs
c.101_102delTT
4 papers
NM_000345.4
p.E35V
c.104A>T
1 paper
NM_000345.4
p.E35E
c.105G>A
3 papers
NM_000345.4
p.K34R
c.101A>G
1 paper
NM_000345.4
p.G36C
c.106G>T
2 papers
NM_000345.4
p.G36R
c.106G>C
2 papers
NM_000345.4
p.G36S
c.106G>A
2 papers
NM_000345.4
p.K34E
c.100A>G
1 paper
NM_000345.4
p.T33delFs
c.98_99delTG
1 paper
NM_000345.4
p.G36D
c.107G>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."