Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.G30R

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
8 papers
NM_032409.3
p.G30R
c.88G>C
Surrounding Variants
1 paper
NM_032409.3
p.G30S
c.88G>A
1 paper
NM_032409.3
p.Y29*
c.87C>A
2 papers
NM_032409.3
p.G30D
c.89G>A
1 paper
NM_032409.3
p.G30insFs
c.89_90ins8
1 paper
NM_032409.3
p.G30V
c.89G>T
2 papers
NM_032409.3
p.Y29fs
c.85_86fs
2 papers
NM_032409.3
p.A28A
c.84C>T
5 papers
NM_032409.3
p.L31*
c.92T>A
1 paper
NM_032409.3
p.A28_Y29insFs
c.84_85insGC
10 papers
NM_032409.3
p.L31L
c.93G>A
8 papers
NM_032409.3
p.G32R
c.94G>A
2 papers
NM_032409.3
p.A28T
c.82G>A
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