Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.G101_K102del2

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.G101_K102del2
c.301_305del6
Surrounding Variants
5 papers
NM_000345.4
p.K102R
c.305A>G
2 papers
NM_000345.4
p.K102E
c.304A>G
1 paper
NM_000345.4
p.Q99_G101insFs
c.296_302dup7
1 paper
NM_000345.4
p.K102_N103Splc
c.306+10T>C
1 paper
NM_000345.4
p.L100S
c.299T>C
1 paper
NM_000345.4
p.L100V
c.298T>G
6 papers
NM_000345.4
p.L100M
c.298T>A
1 paper
NM_000345.4
p.D98_Q99del2
c.292_296del6
1 paper
NM_000345.4
p.Q99H
c.297G>T
1 paper
NM_000345.4
p.Q99H
c.297G>C
4 papers
NM_000345.4
p.Q99R
c.296A>G
2 papers
NM_000345.4
p.Q99*
c.295C>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."