Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.M5T

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
4 papers
NM_000345.4
p.M5T
c.14T>C
Surrounding Variants
1 paper
NM_000345.4
p.M5K
c.14T>A
1 paper
NM_000345.4
p.M5I
c.15G>T
1 paper
NM_000345.4
p.M5I
c.15G>C
2 papers
NM_000345.4
p.M5I
c.15G>A
1 paper
NM_000345.4
p.M5delFs
c.14delA
2 papers
NM_000345.4
p.M5V
c.13A>G
1 paper
NM_000345.4
p.F4insFs
c.12dupC
1 paper
NM_000345.4
p.M1_F4delFs
c.2_12del11
1 paper
NM_000345.4
p.F4L
c.12C>G
1 paper
NM_000345.4
p.F4L
c.12C>A
1 paper
NM_000345.4
p.K6Q
c.16A>C
2 papers
NM_000345.4
p.F4Y
c.11T>A
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."