Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.T54P

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.T54P
c.160A>C
Surrounding Variants
2 papers
NM_000345.4
p.T54S
c.160A>T
80 papers
NM_000345.4
p.A53V
c.158C>T
1 paper
NM_000345.4
p.A53G
c.158C>G
1 paper
NM_000345.4
p.V52insFs
c.156dupG
285 papers
NM_000345.4
p.A53E
c.158C>A
5 papers
NM_000345.4
p.A53P
c.157G>C
2731 papers
NM_000345.4
p.A53T
c.157G>A
2 papers
NM_000345.4
p.V55M
c.163G>A
1 paper
NM_000345.4
p.K45_V52del8
c.133_155del24
1 paper
NM_000345.4
p.T54del1
c.160_161delTGT
1 paper
NM_000345.4
p.V52V
c.156G>C
1 paper
NM_000345.4
p.V55Splc
c.163+1G>A
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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."