Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.I112_D115delFs

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.I112_D115delFs
c.336_343del8
Surrounding Variants
2 papers
NM_000345.4
p.D115A
c.344A>C
1 paper
NM_000345.4
p.D115D
c.345T>C
3 papers
NM_000345.4
p.D115N
c.343G>A
2 papers
NM_000345.4
p.E114D
c.342A>T
1 paper
NM_000345.4
p.M116L
c.346A>T
2 papers
NM_000345.4
p.M116V
c.346A>G
2 papers
NM_000345.4
p.E114D
c.342A>C
1 paper
NM_000345.4
p.M116L
c.346A>C
4 papers
NM_000345.4
p.M116T
c.347T>C
1 paper
NM_000345.4
p.E114V
c.341A>T
1 paper
NM_000345.4
p.E114A
c.341A>C
2 papers
NM_000345.4
p.M116I
c.348G>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."