Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.P95R

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.P95R
c.284C>G
Surrounding Variants
3 papers
NM_032409.3
p.P95A
c.283C>G
4 papers
NM_032409.3
p.G94G
c.282C>T
2 papers
NM_032409.3
p.C96S
c.286T>A
1 paper
NM_032409.3
p.C96R
c.286T>C
1 paper
NM_032409.3
p.C96S
c.287G>C
1 paper
NM_032409.3
p.P95insFs
c.283dupC
2 papers
NM_032409.3
p.A93V
c.278C>T
2 papers
NM_032409.3
p.A93P
c.277G>C
9 papers
NM_032409.3
p.R98W
c.292C>T
4 papers
NM_032409.3
p.R98Q
c.293G>A
1 paper
NM_032409.3
p.C92S
c.275G>C
23 papers
NM_032409.3
p.C92F
c.275G>T
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."