Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.D2insFs

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.D2insFs
c.5dupA
Surrounding Variants
2 papers
NM_000345.4
p.D2E
c.6T>G
1 paper
NM_000345.4
p.D2D
c.6T>C
3 papers
NM_000345.4
p.D2E
c.6T>A
1 paper
NM_000345.4
p.D2insFs
c.6dupT
1 paper
NM_000345.4
p.V3insFs
c.7_8ins32
3 papers
NM_000345.4
p.V3I
c.7G>A
1 paper
NM_000345.4
p.D2G
c.5A>G
2 papers
NM_000345.4
p.D2A
c.5A>C
1 paper
NM_000345.4
p.D2insFs
c.4dupG
1 paper
NM_000345.4
p.V3insFs
c.8_9insA
3 papers
NM_000345.4
p.V3E
c.8T>A
2 papers
NM_000345.4
p.D2Y
c.4G>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."