Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.C166Y

PINK1

1,360 papers

RefSeq Summary

This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form ...

Pfam Domains

Pkinaseaa 264–509UCSCProtein kinase domain

Gene Aliases

HGNC Name

PTEN induced kinase 1

HGNC Previous Symbol

PARK6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032409.3
p.C166Y
c.497G>A
Surrounding Variants
1 paper
NM_032409.3
p.C166S
c.497G>C
1 paper
NM_032409.3
p.S167del1
c.499_501delAGT
1 paper
NM_032409.3
p.C166S
c.496T>A
3 papers
NM_032409.3
p.C166R
c.496T>C
2 papers
NM_032409.3
p.S167C
c.499A>T
20 papers
NM_032409.3
p.S167N
c.500G>A
1 paper
NM_032409.3
p.G165D
c.494G>A
47 papers
NM_032409.3
p.A168P
c.502G>C
2 papers
NM_032409.3
p.A168V
c.503C>T
2 papers
NM_032409.3
p.K164Q
c.490A>C
1 paper
NM_032409.3
p.A169P
c.505G>C
2 papers
NM_032409.3
p.A169_V170ins6
c.505_509ins18
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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."