Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.T59P

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.T59P
c.175A>C
Surrounding Variants
1 paper
NM_000345.4
p.T59A
c.175A>G
4 papers
NM_000345.4
p.K58N
c.174G>T
1 paper
NM_000345.4
p.K58insFs
c.172dupA
5 papers
NM_000345.4
p.K58N
c.174G>C
1 paper
NM_000345.4
p.K58_T59delFs
c.174_175delTC
2 papers
NM_000345.4
p.K58R
c.173A>G
1 paper
NM_000345.4
p.K60*
c.178A>T
1 paper
NM_000345.4
p.K58*
c.172A>T
3 papers
NM_000345.4
p.K60E
c.178A>G
1 paper
NM_000345.4
p.K58E
c.172A>G
1 paper
NM_000345.4
p.K60Q
c.178A>C
1 paper
NM_000345.4
p.K58Q
c.172A>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."