Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.M116I

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.M116I
c.348G>A
Surrounding Variants
2 papers
NM_000345.4
p.M116I
c.348G>T
7 papers
NM_000345.4
p.M116I
c.348G>C
4 papers
NM_000345.4
p.M116T
c.347T>C
11 papers
NM_000345.4
p.P117S
c.349C>T
1 paper
NM_000345.4
p.P117A
c.349C>G
3 papers
NM_000345.4
p.P117T
c.349C>A
2 papers
NM_000345.4
p.P117L
c.350C>T
1 paper
NM_000345.4
p.P117R
c.350C>G
1 paper
NM_000345.4
p.M116L
c.346A>T
2 papers
NM_000345.4
p.M116V
c.346A>G
1 paper
NM_000345.4
p.M116L
c.346A>C
1 paper
NM_000345.4
p.D115D
c.345T>C
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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."