Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.K23E

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.K23E
c.67A>G
Surrounding Variants
5 papers
NM_000345.4
p.K23Q
c.67A>C
1 paper
NM_000345.4
p.K23insFs
c.67_68insT
1 paper
NM_000345.4
p.T22delFs
c.65_66delGG
6 papers
NM_000345.4
p.K23R
c.68A>G
1 paper
NM_000345.4
p.V16_K23ins2
c.47_67dup21
2 papers
NM_000345.4
p.T22I
c.65C>T
4 papers
NM_000345.4
p.T22N
c.65C>A
5 papers
NM_000345.4
p.K23N
c.69A>C
2 papers
NM_000345.4
p.Q24K
c.70C>A
1 paper
NM_000345.4
p.T22S
c.64A>T
1 paper
NM_000345.4
p.T22A
c.64A>G
2 papers
NM_000345.4
p.T22P
c.64A>C
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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."