Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.V55E

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.V55E
c.164T>A
Surrounding Variants
1 paper
NM_000345.4
p.V55insFs
c.164_165insA
1 paper
NM_000345.4
p.V55_A56insFs
c.165_166insA
1 paper
NM_000345.4
p.V55Splc
c.164-1G>C
1 paper
NM_000345.4
p.V55M
c.163G>A
10 papers
NM_000345.4
p.A56P
c.166G>C
2 papers
NM_000345.4
p.A56T
c.166G>A
32 papers
NM_000345.4
p.E57K
c.169G>A
1 paper
NM_000345.4
p.E57V
c.170A>T
3 papers
NM_000345.4
p.E57D
c.171G>T
3 papers
NM_000345.4
p.E57D
c.171G>C
2 papers
NM_000345.4
p.E57E
c.171G>A
1 paper
NM_000345.4
p.K58*
c.172A>T
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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."