Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.T44I

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.T44I
c.131C>T
Surrounding Variants
2 papers
NM_000345.4
p.T44S
c.131C>G
1 paper
NM_000345.4
p.K43delFs
c.128_129delTT
1 paper
NM_000345.4
p.T44T
c.132C>T
1 paper
NM_000345.4
p.T44S
c.130A>T
4 papers
NM_000345.4
p.T44P
c.130A>C
4 papers
NM_000345.4
p.K45E
c.133A>G
1 paper
NM_000345.4
p.K45Q
c.133A>C
1 paper
NM_000345.4
p.K43I
c.128A>T
10 papers
NM_000345.4
p.K45R
c.134A>G
3 papers
NM_000345.4
p.K43R
c.128A>G
1 paper
NM_000345.4
p.K45N
c.135G>T
1 paper
NM_000345.4
p.K45N
c.135G>C
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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."