Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.T81insFs

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.T81insFs
c.241_242insA
Surrounding Variants
1 paper
NM_000345.4
p.T81K
c.242C>A
1 paper
NM_000345.4
p.T81S
c.241A>T
1 paper
NM_000345.4
p.T81A
c.241A>G
3 papers
NM_000345.4
p.T81P
c.241A>C
5 papers
NM_000345.4
p.K80N
c.240G>T
5 papers
NM_000345.4
p.K80N
c.240G>C
1 paper
NM_000345.4
p.V82M
c.244G>A
1 paper
NM_000345.4
p.V82insFs
c.244_245insG
1 paper
NM_000345.4
p.V82G
c.245T>G
6 papers
NM_000345.4
p.V82A
c.245T>C
1 paper
NM_000345.4
p.V82E
c.245T>A
3 papers
NM_000345.4
p.K80R
c.239A>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."