Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.G8R

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.G8R
c.22G>C
Surrounding Variants
1 paper
NM_032409.3
p.G8_R9insA
c.22_26ins3
2 papers
NM_032409.3
p.L7L
c.21G>A
1 paper
NM_032409.3
p.L7L
c.21G>T
1 paper
NM_032409.3
p.R9H
c.26G>A
1 paper
NM_032409.3
p.A6_L7insFs
c.18_19insG
1 paper
NM_032409.3
p.A6insFs
c.17_18insT
2 papers
NM_032409.3
p.A6V
c.17C>T
2 papers
NM_032409.3
p.A6T
c.16G>A
1 paper
NM_032409.3
p.G10S
c.28G>A
1 paper
NM_032409.3
p.Q5Q
c.15G>A
1 paper
NM_032409.3
p.A6insFs
c.16_17insG
1 paper
NM_032409.3
p.Q5P
c.14A>C
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