Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.V74E

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
5 papers
NM_000345.4
p.V74E
c.221T>A
Surrounding Variants
3 papers
NM_000345.4
p.V74G
c.221T>G
1 paper
NM_000345.4
p.V74A
c.221T>C
1 paper
NM_000345.4
p.V74M
c.220G>A
1 paper
NM_000345.4
p.G73G
c.219T>G
1 paper
NM_000345.4
p.T75A
c.223A>G
4 papers
NM_000345.4
p.T75P
c.223A>C
1 paper
NM_000345.4
p.V74insFs
c.220_221insGT
1 paper
NM_000345.4
p.G73_V74delFs
c.217_221del5
1 paper
NM_000345.4
p.G73V
c.218G>T
1 paper
NM_000345.4
p.G73A
c.218G>C
1 paper
NM_000345.4
p.G73D
c.218G>A
2 papers
NM_000345.4
p.T75K
c.224C>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."