Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.C125G

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
23 papers
NM_032409.3
p.C125G
c.373T>G
Surrounding Variants
1 paper
NM_032409.3
p.C125S
c.373T>A
1 paper
NM_032409.3
p.C125R
c.373T>C
1 paper
NM_032409.3
p.A124A
c.372C>A
1 paper
NM_032409.3
p.A124A
c.372C>T
1 paper
NM_032409.3
p.C125S
c.374G>C
3 papers
NM_032409.3
p.A124V
c.371C>T
4 papers
NM_032409.3
p.Q126*
c.376C>T
30 papers
NM_032409.3
p.Q126P
c.377A>C
2 papers
NM_032409.3
p.Q126R
c.377A>G
2 papers
NM_032409.3
p.S123*
c.368C>A
1 paper
NM_032409.3
p.Q126H
c.378G>C
1 paper
NM_032409.3
p.Q126H
c.378G>T
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