Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.K6R

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
4 papers
NM_000345.4
p.K6R
c.17A>G
Surrounding Variants
2 papers
NM_000345.4
p.K6I
c.17A>T
51 papers
NM_000345.4
p.K6N
c.18A>T
2 papers
NM_000345.4
p.K6K
c.18A>G
4 papers
NM_000345.4
p.K6N
c.18A>C
1 paper
NM_000345.4
p.K6Q
c.16A>C
1 paper
NM_000345.4
p.K6_G7insFs
c.18_19insG
1 paper
NM_000345.4
p.M5I
c.15G>T
1 paper
NM_000345.4
p.G7R
c.19G>C
1 paper
NM_000345.4
p.M5I
c.15G>C
2 papers
NM_000345.4
p.M5I
c.15G>A
1 paper
NM_000345.4
p.G7R
c.19G>A
1 paper
NM_000345.4
p.M5delFs
c.14delA
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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."