Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.R66G

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
1 paper
NM_032409.3
p.R66G
c.196C>G
Surrounding Variants
1 paper
NM_032409.3
p.R66H
c.197G>A
5 papers
NM_032409.3
p.L67F
c.199C>T
1 paper
NM_032409.3
p.R68G
c.202C>G
11 papers
NM_032409.3
p.L63L
c.189C>T
2 papers
NM_032409.3
p.R68H
c.203G>A
11 papers
NM_032409.3
p.R68P
c.203G>C
1 paper
NM_032409.3
p.R68_Q72delFs
c.204_214del11
1 paper
NM_032409.3
p.F69S
c.206T>C
1 paper
NM_032409.3
p.G62E
c.185G>A
1 paper
NM_032409.3
p.G62A
c.185G>C
1 paper
NM_032409.3
p.L61V
c.181C>G
1 paper
NM_032409.3
p.L61delFs
c.181delC
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