Varaico: Literature-Extracted Genetic Variants

Gene:PINK1

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
1–12 of 954 variants
190 papers
NM_032409.3
p.G309D
c.926G>A
139 papers
NM_032409.3
p.Q456*
c.1366C>T
124 papers
NM_032409.3
p.L347P
c.1040T>C
93 papers
NM_032409.3
p.W437*
c.1311G>A
91 papers
NM_032409.3
p.W437*
c.1310G>A
67 papers
NM_032409.3
p.G411S
c.1231G>A
60 papers
NM_032409.3
p.N521T
c.1562A>C
49 papers
NM_032409.3
p.A340T
c.1018G>A
47 papers
NM_032409.3
p.A168P
c.502G>C
46 papers
NM_032409.3
p.T313M
c.938C>T
46 papers
NM_032409.3
p.R492*
c.1474C>T
45 papers
NM_032409.3
p.D384A
c.1151A>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."