Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.K60R

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.K60R
c.179A>G
Surrounding Variants
1 paper
NM_000345.4
p.K60I
c.179A>T
1 paper
NM_000345.4
p.K60*
c.178A>T
3 papers
NM_000345.4
p.K60E
c.178A>G
1 paper
NM_000345.4
p.K60Q
c.178A>C
1 paper
NM_000345.4
p.E57_T59del3
c.169_176del9
1 paper
NM_000345.4
p.E61*
c.181G>T
2 papers
NM_000345.4
p.E61Q
c.181G>C
29 papers
NM_000345.4
p.E61K
c.181G>A
1 paper
NM_000345.4
p.K58_T59delFs
c.174_175delTC
1 paper
NM_000345.4
p.E61V
c.182A>T
1 paper
NM_000345.4
p.E61G
c.182A>G
3 papers
NM_000345.4
p.E61A
c.182A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."