Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.K23N

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
5 papers
NM_000345.4
p.K23N
c.69A>C
Surrounding Variants
2 papers
NM_000345.4
p.Q24K
c.70C>A
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.K23E
c.67A>G
5 papers
NM_000345.4
p.K23Q
c.67A>C
2 papers
NM_000345.4
p.Q24P
c.71A>C
1 paper
NM_000345.4
p.K23insFs
c.67_68insT
1 paper
NM_000345.4
p.T22delFs
c.65_66delGG
1 paper
NM_000345.4
p.Q24H
c.72G>T
2 papers
NM_000345.4
p.G25R
c.73G>C
2 papers
NM_000345.4
p.G25S
c.73G>A
2 papers
NM_000345.4
p.T22I
c.65C>T
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."