Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.S187G

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.S187G
c.559A>G
Surrounding Variants
13 papers
NM_032409.3
p.K186N
c.558G>C
1 paper
NM_032409.3
p.S187T
c.560G>C
12 papers
NM_032409.3
p.K186N
c.558G>T
1 paper
NM_032409.3
p.K186R
c.557A>G
1 paper
NM_032409.3
p.K186E
c.556A>G
1 paper
NM_032409.3
p.K186*
c.556A>T
1 paper
NM_032409.3
p.T188T
c.564C>T
1 paper
NM_032409.3
p.T185S
c.553A>T
5 papers
NM_032409.3
p.G189R
c.565G>A
5 papers
NM_032409.3
p.G189R
c.565G>C
1 paper
NM_032409.3
p.E183fs
c.547_548fs
1 paper
NM_032409.3
p.E183fs
c.547_548fs
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