Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.M127L

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.M127L
c.379A>T
Surrounding Variants
1 paper
NM_000345.4
p.M127V
c.379A>G
1 paper
NM_000345.4
p.M127L
c.379A>C
1 paper
NM_000345.4
p.M127T
c.380T>C
9 papers
NM_000345.4
p.M127I
c.381G>T
9 papers
NM_000345.4
p.M127I
c.381G>C
9 papers
NM_000345.4
p.M127I
c.381G>A
2 papers
NM_000345.4
p.E126A
c.377A>C
1 paper
NM_000345.4
p.L113_E126delFs
c.337_376del40
2 papers
NM_000345.4
p.E126K
c.376G>A
2 papers
NM_000345.4
p.P128A
c.382C>G
3 papers
NM_000345.4
p.P128T
c.382C>A
1 paper
NM_000345.4
p.P128L
c.383C>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."