Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.R119R

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.R119R
c.357G>A
Surrounding Variants
13 papers
NM_032409.3
p.R120W
c.358C>T
1 paper
NM_032409.3
p.R119Q
c.356G>A
4 papers
NM_032409.3
p.R120Q
c.359G>A
2 papers
NM_032409.3
p.S118R
c.354C>A
2 papers
NM_032409.3
p.S118R
c.354C>G
2 papers
NM_032409.3
p.S118R
c.352A>C
1 paper
NM_032409.3
p.A121E
c.362C>A
1 paper
NM_032409.3
p.E117E
c.351G>A
1 paper
NM_032409.3
p.E117A
c.350A>C
1 paper
NM_032409.3
p.V122I
c.364G>A
1 paper
NM_032409.3
p.E117K
c.349G>A
1 paper
NM_032409.3
p.E117Q
c.349G>C
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