Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.P128T

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
3 papers
NM_000345.4
p.P128T
c.382C>A
Surrounding Variants
2 papers
NM_000345.4
p.P128A
c.382C>G
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
1 paper
NM_000345.4
p.P128L
c.383C>T
1 paper
NM_000345.4
p.M127_P128delFs
c.381_382delGC
1 paper
NM_000345.4
p.M127T
c.380T>C
1 paper
NM_000345.4
p.P128delFs
c.382_383delGG
109 papers
NM_000345.4
p.S129A
c.385T>G
5 papers
NM_000345.4
p.S129P
c.385T>C
1 paper
NM_000345.4
p.M127L
c.379A>T
1 paper
NM_000345.4
p.M127V
c.379A>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."