Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.A78delFs

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.A78delFs
c.232delC
Surrounding Variants
4 papers
NM_000345.4
p.A78V
c.233C>T
1 paper
NM_000345.4
p.A78D
c.233C>A
1 paper
NM_000345.4
p.A78P
c.232G>C
2 papers
NM_000345.4
p.A78T
c.232G>A
1 paper
NM_000345.4
p.A78A
c.234C>T
2 papers
NM_000345.4
p.A76_V77del2
c.226_230del6
1 paper
NM_000345.4
p.Q79*
c.235C>T
1 paper
NM_000345.4
p.V77G
c.230T>G
2 papers
NM_000345.4
p.V77A
c.230T>C
6 papers
NM_000345.4
p.Q79L
c.236A>T
1 paper
NM_000345.4
p.Q79R
c.236A>G
2 papers
NM_000345.4
p.V77I
c.229G>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."