Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.K97N

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
2 papers
NM_000345.4
p.K97N
c.291G>C
Surrounding Variants
1 paper
NM_000345.4
p.K97N
c.291G>T
1 paper
NM_000345.4
p.D98N
c.292G>A
1 paper
NM_000345.4
p.K97R
c.290A>G
1 paper
NM_000345.4
p.K97E
c.289A>G
5 papers
NM_000345.4
p.D98A
c.293A>C
1 paper
NM_000345.4
p.K97insFs
c.291dupG
2 papers
NM_000345.4
p.Q99*
c.295C>T
1 paper
NM_000345.4
p.Q99E
c.295C>G
1 paper
NM_000345.4
p.Q99K
c.295C>A
1 paper
NM_000345.4
p.D98del1
c.292_293delGTC
1 paper
NM_000345.4
p.K96I
c.287A>T
13 papers
NM_000345.4
p.K96R
c.287A>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."