Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.I158V

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.I158V
c.472A>G
Surrounding Variants
1 paper
NM_032409.3
p.G159R
c.475G>A
1 paper
NM_032409.3
p.G159R
c.475G>C
2 papers
NM_032409.3
p.Y156F
c.467A>T
1 paper
NM_032409.3
p.Y156H
c.466T>C
1 paper
NM_032409.3
p.Y156D
c.466T>G
1 paper
NM_032409.3
p.E155D
c.465G>C
1 paper
NM_032409.3
p.E155D
c.465G>T
1 paper
NM_032409.3
p.S161T
c.481T>A
1 paper
NM_032409.3
p.E154G
c.461A>G
1 paper
NM_032409.3
p.I162V
c.484A>G
1 paper
NM_032409.3
p.L153P
c.458T>C
1 paper
NM_032409.3
p.L153R
c.458T>G
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