Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.H50R

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
4 papers
NM_000345.4
p.H50R
c.149A>G
Surrounding Variants
1 paper
NM_000345.4
p.H50P
c.149A>C
1 paper
NM_000345.4
p.H50insFs
c.149_150ins4
448 papers
NM_000345.4
p.H50Q
c.150T>G
448 papers
NM_000345.4
p.H50Q
c.150T>A
3 papers
NM_000345.4
p.H50D
c.148C>G
1 paper
NM_000345.4
p.H50N
c.148C>A
1 paper
NM_000345.4
p.G51insFs
c.151_152insC
1 paper
NM_000345.4
p.G51R
c.151G>C
6 papers
NM_000345.4
p.G51S
c.151G>A
1 paper
NM_000345.4
p.V49A
c.146T>C
1 paper
NM_000345.4
p.V49E
c.146T>A
484 papers
NM_000345.4
p.G51D
c.152G>A
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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."