Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.R42P

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
35 papers
NM_032409.3
p.R42P
c.125G>C
Surrounding Variants
4 papers
NM_032409.3
p.R42H
c.125G>A
3 papers
NM_032409.3
p.R42C
c.124C>T
1 paper
NM_032409.3
p.G43R
c.127G>A
1 paper
NM_032409.3
p.G43R
c.127G>C
1 paper
NM_032409.3
p.G43A
c.128G>C
1 paper
NM_032409.3
p.G43V
c.128G>T
1 paper
NM_032409.3
p.C40_V41insFs
c.120_121insA
1 paper
NM_032409.3
p.R45C
c.133C>T
1 paper
NM_032409.3
p.G39D
c.116G>A
1 paper
NM_032409.3
p.G39A
c.116G>C
1 paper
NM_032409.3
p.G39V
c.116G>T
1 paper
NM_032409.3
p.G39R
c.115G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."