Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.K21Q

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
1 paper
NM_000345.4
p.K21Q
c.61A>C
Surrounding Variants
1 paper
NM_000345.4
p.A19_E20del1
c.57_59delTCA
3 papers
NM_000345.4
p.K21R
c.62A>G
1 paper
NM_000345.4
p.E20_K21delFs
c.60_61delTC
2 papers
NM_000345.4
p.K21N
c.63A>T
2 papers
NM_000345.4
p.E20V
c.59A>T
2 papers
NM_000345.4
p.E20G
c.59A>G
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
1 paper
NM_000345.4
p.A19A
c.57T>A
2 papers
NM_000345.4
p.A19delFs
c.56delG
2 papers
NM_000345.4
p.T22I
c.65C>T
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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."