Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.A56_Q62ins2

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.A56_Q62ins2
c.168_185dup18
Surrounding Variants
3 papers
NM_000345.4
p.A56_Q62del0
c.168_185del18
1 paper
NM_000345.4
p.Q62insFs
c.185dupA
2 papers
NM_000345.4
p.V63G
c.188T>G
2 papers
NM_000345.4
p.V63A
c.188T>C
6 papers
NM_000345.4
p.V63E
c.188T>A
1 paper
NM_000345.4
p.V63delFs
c.187delC
1 paper
NM_000345.4
p.Q62K
c.184C>A
1 paper
NM_000345.4
p.K60_E61del2
c.178_182del6
1 paper
NM_000345.4
p.K60_E61del1
c.180_182delTCT
1 paper
NM_000345.4
p.T64S
c.190A>T
1 paper
NM_000345.4
p.E61V
c.182A>T
2 papers
NM_000345.4
p.T64A
c.190A>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."