Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.A168P

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
47 papers
NM_032409.3
p.A168P
c.502G>C
Surrounding Variants
2 papers
NM_032409.3
p.A168V
c.503C>T
20 papers
NM_032409.3
p.S167N
c.500G>A
2 papers
NM_032409.3
p.S167C
c.499A>T
1 paper
NM_032409.3
p.A169P
c.505G>C
2 papers
NM_032409.3
p.A169_V170ins6
c.505_509ins18
1 paper
NM_032409.3
p.A169V
c.506C>T
1 paper
NM_032409.3
p.S167del1
c.499_501delAGT
2 papers
NM_032409.3
p.C166Y
c.497G>A
1 paper
NM_032409.3
p.C166S
c.497G>C
1 paper
NM_032409.3
p.C166S
c.496T>A
3 papers
NM_032409.3
p.C166R
c.496T>C
31 papers
NM_032409.3
p.V170G
c.509T>G
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