Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.K96I

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.K96I
c.287A>T
Surrounding Variants
13 papers
NM_000345.4
p.K96R
c.287A>G
1 paper
NM_000345.4
p.K96E
c.286A>G
1 paper
NM_000345.4
p.K97E
c.289A>G
3 papers
NM_000345.4
p.V95G
c.284T>G
2 papers
NM_000345.4
p.V95A
c.284T>C
1 paper
NM_000345.4
p.V95D
c.284T>A
1 paper
NM_000345.4
p.K97R
c.290A>G
1 paper
NM_000345.4
p.K97N
c.291G>T
2 papers
NM_000345.4
p.K97N
c.291G>C
1 paper
NM_000345.4
p.V95L
c.283G>C
2 papers
NM_000345.4
p.V95I
c.283G>A
1 paper
NM_000345.4
p.D98N
c.292G>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."